Vladimir Sukhorukov - Academia.edu (original) (raw)
Papers by Vladimir Sukhorukov
Biopreservation and Biobanking, 2021
The research biobanking field is developing rapidly in Russia. Over the course of the last decade... more The research biobanking field is developing rapidly in Russia. Over the course of the last decade, numerous biobanks were created or formed from existing collections of human and environmental biospecimens. The Russian National Association of Biobanks and Biobanking Specialists (NASBIO) was established in December 2018, aiming to: (1) unite professionals and research centers to create and develop a network of biobanks in Russia; (2) provide services and expertise in the field of biobanking; (3) execute various research projects utilizing biobanks' infrastructure; and (4) facilitate integration of Russian biomedical research centers into global research activities. The organizational structure, aims, and plans of this newly formed national association are reviewed in this article. The founders of NASBIO hope that the association will promote further development of biobanks and their networking in Russia, which is critically important for the success of national biomedical, pharmaceutical, and biotechnological research, and can facilitate international biobanking projects on a global scale.
Advanced Materials Research, 2014
The role of genetic instability (inferred from cytogenetic parameters of chromosome aberrations) ... more The role of genetic instability (inferred from cytogenetic parameters of chromosome aberrations) and nuclear DNA repair activity play in radiation-determined diseases (neoplasms, including malignancies; congenital disorders and malformations; and chromosomal disorders) is considered in children from regions varying in extent of soil contamination with cesium-137 after the Chernobyl Accident.
Advanced Techniques in Biology & Medicine, 2017
This article presents data on the analysis of purines and pyrimidines by LC/MS. In this paper are... more This article presents data on the analysis of purines and pyrimidines by LC/MS. In this paper are given information about the biochemical properties of these compounds and their biological role. The article describes the procedure of the analysis of these compounds by LC/MS with the sample preparation step to obtain a specific result. This article presents reference ranges of normal levels of purines and pyrimidines and changes of these values in various pathologies, such as hereditary diseases in children. This article is intended for clinicians, laboratory diagnostician, and specialists in the field of clinical genetics, pediatric neurologists.
Biochemistry (Moscow), 2021
Alzheimer's disease is the most common age-related neurodegenerative disease. Understanding o... more Alzheimer's disease is the most common age-related neurodegenerative disease. Understanding of its etiology and pathogenesis is constantly expanding. Thus, the increasing attention of researchers is directed to the study of the role of mitochondrial disorders. In addition, in recent years, the concept of Alzheimer's disease as a stress-induced disease has begun to form more and more actively. The stress-induced damage to the neuronal system can trigger a vicious circle of pathological processes, among which mitochondrial dysfunctions have a significant place, since mitochondria represent a substantial component in the anti-stress activity of the cell. The study of mitochondrial disorders in Alzheimer's disease is relevant for at least two reasons: first, as important pathogenetic component in this disease; second, due to vital role of mitochondria in formation of the body resistance to various conditions, including stressful ones, throughout the life. This literature review analyzes the results of a number of recent studies assessing potential significance of the mitochondrial disorders in Alzheimer's disease. The probable mechanisms of mitochondrial disorders associated with the development of this disease are considered: bioenergetic dysfunctions, changes in mitochondrial DNA (including assessment of the significance of its haplogroup features), disorders in the dynamics of these organelles, oxidative damage to calcium channels, damage to MAM complexes (membranes associated with mitochondria; mitochondria-associated membranes), disruptions of the mitochondrial quality control system, mitochondrial permeability, etc. The issues of the "primary" or "secondary" mitochondrial damage in Alzheimer's disease are discussed. Potentials for the development of new methods for diagnosis and therapy of mitochondrial disorders in Alzheimer's disease are considered.
Dissection of the internal carotid artery and vertebral artery (ICA/VA) is one of the leading cau... more Dissection of the internal carotid artery and vertebral artery (ICA/VA) is one of the leading causes of ischaemic stroke in young people. The reason for the arterial wall weakness leading to its dissection remains unclear. Morphological study of the ICA/VA, and clinical data, indicate the presence of connective tissue dysplasia in patients, which is not associated with any known hereditary diseases. In this article, the authors summarize the results of their studies (histological and histochemical examination of muscle biopsies, electron microscopy of skin arteries) and observations (stroke-like episode, A3243G mutation in the mitochondrial genome in a patient with repeat ICA/VA dissections; increased peak lactate during MR spectroscopy in a patient who suffered an ICA dissection, then lobar hemorrhages a few years later). Based on these, the authors propose mitochondrial arteriopathy as the cause of arterial wall dysplasia leading to dissection. This article provides data on the pr...
L.O. Badalyan Neurological Journal, 2020
Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (... more Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (СMD), characterized by genetic heterogeneity and a severe course in most cases. CMD pathogenesis is associated with a partial or complete absence of laminin 2 chains in the basal membrane of muscle fiber caused by a mutation in theLAMA2gene. The clinical manifestations of LAMA2-associated muscular dystrophy vary from severe СMD (СMD 1A) with an early onset to a relatively mild course with a late onset and phenotype of limb-girdle muscular dystrophy. CMD type 1A is characterized by a delay in motor development from the first months of the life (while the vast majority of children do not master the ability to walk independently), facial muscles weakness, ptosis, ophthalmoplegia, spine rigidity, early occurrence of contractures in the shoulder, elbow, hip and knee joints, restrictive respiratory disorders, nutritional problems, such as disorders of swallowing and chewing, gastroesophageal r...
European Journal of Paediatric Neurology, 2015
Morphological newsletter
Supporting of the functional pool of neurons during age-related brain involution is closely relat... more Supporting of the functional pool of neurons during age-related brain involution is closely related to chaperone-mediated autophagy, the main function of which is to provide cellular proteostasis and utilize neurotoxic proteins. Impairment of this type of autophagy underlies the pathogenesis of many age-associated neurodegenerative diseases. In this aspect, it seems relevant to study the relationship between key markers of chaperone-mediated autophagy and their relative contribution to aging and neurodegeneration in order to determine pharmaceutical targets. The aim of the study was to determine the levels of expression of markers of chaperone-mediated autophagy - heat shock protein 70 (HSP70) and lysosome-associated membrane protein type 2A (LAMP2) in neurons of various areas of the human brain during aging. The study was performed on autopsy material of patients whose causes of death were not associated with neurological diseases. Preparations of the cortex of the precentral gyrus...
Human Physiology, 2020
Hypoxia-inducible factors (HIF) are key transcription factors that alter gene expression in hypox... more Hypoxia-inducible factors (HIF) are key transcription factors that alter gene expression in hypoxia, and play a central role in ensuring an adaptive response to low oxygen levels in the brain. This review provides information on the functional role of HIF in adaptive tissue responses, specifically in response to metabolic shifts, in angiogenesis, apoptosis and others, which plays an important role in cell survival under hypoxic conditions. We describe the molecular structure of the main HIF subunits, changes in their expression and decay at normal oxygen levels, as well as in acute and chronic hypoxia, and the factors regulating these changes. Special attention is paid to the role of microRNAs in regulating HIF changes, as well as the interaction of HIF subunits with mitochondrial factors. The role of HIF in neuroprotection and neuroglial adaptive changes is described in detail. The importance of further study of HIF’s physiological role is noted, to obtain new information about the pathogenesis of hypoxic brain injury, including its early stages, which determines the risk of later neurological disease.
The present article provides a modern look at the main mechanisms of resistance to immunosuppress... more The present article provides a modern look at the main mechanisms of resistance to immunosuppressive therapy in patients with nephrotic syndrome. The urgency of the problem is because, in most cases, the molecular basis of steroid-resistant nephrotic syndrome is not known, which has now led to the study of the pharmacokinetic, dynamic and genetic aspects of immunosuppressive drugs used to treat nephrotic syndrome, as well as the possibility of genotyping before treatment. The article deals with mechanisms and causes of resistance to the main immunosuppressive drugs used to treat nephrotic syndrome, which fully reflects the need for further study of pharamcogenomics and pharmacokinetics of this disease. We also consider the possibility of genotyping before treatment, which in the long term will allow us to take into account the patient's genotypic characteristics for the purpose of prescribing optimal regimens for immunosuppressive therapy and for carrying out a personalized...
International Journal of Molecular Sciences, 2021
Aging is associated with a decline in cognitive function, which can partly be explained by the ac... more Aging is associated with a decline in cognitive function, which can partly be explained by the accumulation of damage to the brain cells over time. Neurons and glia undergo morphological and ultrastructure changes during aging. Over the past several years, it has become evident that at the cellular level, various hallmarks of an aging brain are closely related to mitophagy. The importance of mitochondria quality and quantity control through mitophagy is highlighted by the contribution that defects in mitochondria–autophagy crosstalk make to aging and age-related diseases. In this review, we analyze some of the more recent findings regarding the study of brain aging and neurodegeneration in the context of mitophagy. We discuss the data on the dynamics of selective autophagy in neurons and glial cells during aging and in the course of neurodegeneration, focusing on three mechanisms of mitophagy: non-receptor-mediated mitophagy, receptor-mediated mitophagy, and transcellular mitophagy....
Journal of Neuroimmunology, 2021
In this study, we aimed to explore the expression of genes associated with neuroinflammation in p... more In this study, we aimed to explore the expression of genes associated with neuroinflammation in patients with benign and highly active multiple sclerosis (MS) and healthy controls, to define gene signatures associated with MS as well as disease activity and progression. We identified differences in the expression of 89 genes in benign and highly active MS patients and in healthy controls (q < 0.05). Twenty-eight genes related to myeloid cells function, the innate immune response, apoptosis, and autophagy were differentially expressed in patients with benign and highly active MS. Time to second relapse and expanded disability status scale (EDSS) scores were correlated with the expression of genes associated with myeloid cells function, innate immunity, and apoptosis. Our results could indicate the importance of innate immunity-associated pathways in maintaining high disease activity in MS and their crucial role in disease progression.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2017
Адрес для корреспонденции: Балева Лариса Степановна-д.м.н., проф., рук. отдела радиационной экопа... more Адрес для корреспонденции: Балева Лариса Степановна-д.м.н., проф., рук. отдела радиационной экопатологии детского возраста НИКИ педиатрии им. акад. Ю.Е. Вельтищева Сипягина Алла Евгеньевна-д.м.н., гл. научн. сотр. отдела радиационной экопатологии детского возраста НИКИ педиатрии им. акад. Ю.Е. Вельтищева Карахан Наталья Марковна-к.б.н., вед. научн. сотр. отдела радиационной экопатологии детского возраста НИКИ педиатрии им. акад. Ю.Е. Вельтищева Сухоруков Владимир Сергеевич-д.м.н., проф., зав. научно-исследовательской лабораторией общей патологии НИКИ педиатрии им. акад. Ю.Е. Вельтищева Воронкова Анастасия Сергеевна-науч. сотр. научно-исследовательской лабораторией общей патологии НИКИ педиатрии им. акад. Ю.Е. Вельтищева Садыков Арсений Русланович-ординатор РНИМУ им. Н.Н. Пирогова. 125412 Москва, ул. Талдомская, д. 2.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2017
Рассмотрены ключевые проблемы перехода национальной системы здравоохранения на новую платформу пе... more Рассмотрены ключевые проблемы перехода национальной системы здравоохранения на новую платформу персонализированной медицины и, в частности, педиатрии. Во второй части, публикуемой в настоящем номере, анализируются основные механизмы построения новой модели. Представлены основные предпосылки (финансово-экономические, научные фундаментальные и научные прикладные), актуализировавшие в конце прошлого века ее появление и строительство в структуре глобальных трендов развития рынков здравоохранения. Показано, что одним из основных стимулов развития персонализированной медицины является заметный рост индивидуального и общественного спроса на превентивно-профилактические средства и соответствующий инструментарий. Все большую значимость приобретают разработки программ по управлению собственным здоровьем, разрабатываются и внедряются адаптированные к новой платформе бизнес-модели развития (в том числе государственного и частного партнерства). Рассмотрены доказательства того, что прогрессивный сценарий развития модели персонализированной медицины обеспечит значительное снижение расходов на медицинское обеспечение. Большой раздел статьи посвящен развитию положения о том, что понимание и осознание современным государством, врачебной аудиторией и индивидуумом-гражданином значимости охраны и управления собственным здоровьем,-важнейший аспект образовательной и просветительской деятельности врача и медицинской сестры. Детально рассмотрены перспективы персонализированной педиатрии как глобального инструмента реструктуризации всей системы здравоохранения.
Journal of Epileptology, 2017
Summary. There are some genetic disorders with combination of mental retardation, epilepsy and au... more Summary. There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the disturbances of the m-TOR pathway can also be detected in Rett syndrome (RS), Fragile X syndrome and Down syndrome. We describe the rare case of co-occurrence of TSC and RS.. The female child was born at term by normal delivery after a non-complicated pregnancy. Family history was negative for epilepsy and mental retardation. The neonatal period was uneventful and psychomotor development was normal before the child became 1.5 years old. At the age of 18 months the girl developed hand-wringing stereotypes, facial hypotonia, ataxia and gait apraxia. She lost eye-to-eye contact and verbal contact with relatives, and became indifferent to the surrounding environment. When she was 2 years old, focal adversive seizures started which w...
![Research paper thumbnail of [Clinical relevance of individual mitochondrial DNA characteristics]](https://attachments.academia-assets.com/109540729/thumbnails/1.jpg)
](Voprosy okhrany materinstva i detstva
Широко известно, что мутации митохондриальной ДНК могут оказывать существенное влияние на развити... more Широко известно, что мутации митохондриальной ДНК могут оказывать существенное влияние на развитие и течение различных мультисистемных заболеваний. Однако митохондриальный геном крайне вариабелен, даже при отсутствии патологических мутаций, он несет в себе важные индивидуальные черты. Некоторые полиморфизмы митохондриальной ДНК закреплены наследованием на протяжении тысяч лет, они филогенетически развивались по мере расселения человечества. В настоящее время эти полиморфизмы систематизированы в так называемые гаплогруппы. Целью настоящего обзора явился анализ литературы последних лет, посвященной взаимосвязи наследственного паттерна митохондриального генома (т.е. гаплогрупп) с фенотипическими особенностями. Структура митохондриальной ДНК фенотипически может проявляться как физиологические особенности организма, предрасположенность к тому или иному виду спортивной нагрузки, долгожительство. С другой стороны, индивидуальная структура митохондриальной ДНК может влиять на риск развития метаболических расстройств, заболеваний мозга, иммунной системы, психических заболеваний, воспалительных процессов и сепсиса. Многие исследования посвящены влиянию особенностей митохондриальной ДНК на предрасположенность к раку и течение этого заболевания. Отдельного внимания заслуживает влияние особенностей структуры митохондриального генома на чувствительность к различным видам лечения: трансплантация, антиретровирусная терапия и др. В настоящем обзоре не только выделены наиболее интересные исследования последних лет, но и рассматриваются современные методологические подходы к изучению митохондриальных гаплогрупп. В связи с глобальной разрозненностью результатов анализа гаплогрупп на сегодняшний день крайне важно максимально широкое освещение проводимых исследований.
Эозинофилы-лейкоциты, которые в большом количестве накапливаются в области аллергического 1 Узелк... more Эозинофилы-лейкоциты, которые в большом количестве накапливаются в области аллергического 1 Узелки, эозинофилия, ревматизм, дерматит, опухоль.
Voprosy okhrany materinstva i detstva
Адрес для корреспонденции: Виноградова Татьяна Владимировна-к.м.н., в.н.с. научно-исследовательск... more Адрес для корреспонденции: Виноградова Татьяна Владимировна-к.м.н., в.н.с. научно-исследовательской лаборатории общей патологии НИКИ педиатрии Сухоруков Владимир Сергеевич-д.м.н., проф., зав. той же лабораторией Ружицкая Елена Апполосовна-к.м.н., в.н.с. той же лаборатории Пампура Александр Николаевич-д.м.н., зав. отделением аллергологии и клинической иммунологии того же учреждения Чусляева Анна Андреевна-н.с. того же отделения Варламов Евгений Евгениевич-к.м.н., ст.н.с. того же отделения 125412 Москва, ул. Талдомская, д. 2
Voprosy okhrany materinstva i detstva
The paper deals with damage to the central nervous system and skeletal muscles in MELAS syndrome.... more The paper deals with damage to the central nervous system and skeletal muscles in MELAS syndrome. It gives data on the specific features of inheritance of the syndrome. The genes whose mutations lead to the development of the disease are indicated. The pathophysiological mechanisms and sequels of stroke-like episodes are described. The authors present the results of an original study of the pathological changes in skeletal muscles in children with MELAS syndrome and their mothers. They describe the pathophysiological paradox of MELAS, which provides an explanation for the occurrence of cerebrovascular disorders and the severity of the course of the disease. There is a rationale for L-arginine treatment in central nervous system lesion. Data on drug therapy for MELAS syndrome are given.
Journal of Pediatric Endocrinology and Metabolism, 2015
Carnitine is necessary for the transfer of long-chain fatty acids from the cytosol into mitochond... more Carnitine is necessary for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A carnitine deficiency results in impaired energy production from fatty acids.We reviewed the plasma level of total carnitine, free carnitine, and acylcarnitines in 1270 children with psychomotor retardation, low growth, and weight parameters. Tandem mass spectrometry (MS/MS) was applied. Low free carnitine level in plasma was used as a marker of carnitine deficiency.A total of 102 (8%) children had free carnitine level <19 μmol/L (norm 19–60 μmol/L). As a result of the subsequent investigation, hereditary diseases were diagnosed in 76 (¾) children and out of that 19 had very low free carnitine plasma level (<10 μmol/L). Fanconi syndrome, fat oxidation defects, primary systemic carnitine deficiency, mitochondrial encephalomyopathy, and Noonan syndrome were revealed in these 19 children.Efficacy of levocarnitine treatment in children with very low fre...
Biopreservation and Biobanking, 2021
The research biobanking field is developing rapidly in Russia. Over the course of the last decade... more The research biobanking field is developing rapidly in Russia. Over the course of the last decade, numerous biobanks were created or formed from existing collections of human and environmental biospecimens. The Russian National Association of Biobanks and Biobanking Specialists (NASBIO) was established in December 2018, aiming to: (1) unite professionals and research centers to create and develop a network of biobanks in Russia; (2) provide services and expertise in the field of biobanking; (3) execute various research projects utilizing biobanks' infrastructure; and (4) facilitate integration of Russian biomedical research centers into global research activities. The organizational structure, aims, and plans of this newly formed national association are reviewed in this article. The founders of NASBIO hope that the association will promote further development of biobanks and their networking in Russia, which is critically important for the success of national biomedical, pharmaceutical, and biotechnological research, and can facilitate international biobanking projects on a global scale.
Advanced Materials Research, 2014
The role of genetic instability (inferred from cytogenetic parameters of chromosome aberrations) ... more The role of genetic instability (inferred from cytogenetic parameters of chromosome aberrations) and nuclear DNA repair activity play in radiation-determined diseases (neoplasms, including malignancies; congenital disorders and malformations; and chromosomal disorders) is considered in children from regions varying in extent of soil contamination with cesium-137 after the Chernobyl Accident.
Advanced Techniques in Biology & Medicine, 2017
This article presents data on the analysis of purines and pyrimidines by LC/MS. In this paper are... more This article presents data on the analysis of purines and pyrimidines by LC/MS. In this paper are given information about the biochemical properties of these compounds and their biological role. The article describes the procedure of the analysis of these compounds by LC/MS with the sample preparation step to obtain a specific result. This article presents reference ranges of normal levels of purines and pyrimidines and changes of these values in various pathologies, such as hereditary diseases in children. This article is intended for clinicians, laboratory diagnostician, and specialists in the field of clinical genetics, pediatric neurologists.
Biochemistry (Moscow), 2021
Alzheimer's disease is the most common age-related neurodegenerative disease. Understanding o... more Alzheimer's disease is the most common age-related neurodegenerative disease. Understanding of its etiology and pathogenesis is constantly expanding. Thus, the increasing attention of researchers is directed to the study of the role of mitochondrial disorders. In addition, in recent years, the concept of Alzheimer's disease as a stress-induced disease has begun to form more and more actively. The stress-induced damage to the neuronal system can trigger a vicious circle of pathological processes, among which mitochondrial dysfunctions have a significant place, since mitochondria represent a substantial component in the anti-stress activity of the cell. The study of mitochondrial disorders in Alzheimer's disease is relevant for at least two reasons: first, as important pathogenetic component in this disease; second, due to vital role of mitochondria in formation of the body resistance to various conditions, including stressful ones, throughout the life. This literature review analyzes the results of a number of recent studies assessing potential significance of the mitochondrial disorders in Alzheimer's disease. The probable mechanisms of mitochondrial disorders associated with the development of this disease are considered: bioenergetic dysfunctions, changes in mitochondrial DNA (including assessment of the significance of its haplogroup features), disorders in the dynamics of these organelles, oxidative damage to calcium channels, damage to MAM complexes (membranes associated with mitochondria; mitochondria-associated membranes), disruptions of the mitochondrial quality control system, mitochondrial permeability, etc. The issues of the "primary" or "secondary" mitochondrial damage in Alzheimer's disease are discussed. Potentials for the development of new methods for diagnosis and therapy of mitochondrial disorders in Alzheimer's disease are considered.
Dissection of the internal carotid artery and vertebral artery (ICA/VA) is one of the leading cau... more Dissection of the internal carotid artery and vertebral artery (ICA/VA) is one of the leading causes of ischaemic stroke in young people. The reason for the arterial wall weakness leading to its dissection remains unclear. Morphological study of the ICA/VA, and clinical data, indicate the presence of connective tissue dysplasia in patients, which is not associated with any known hereditary diseases. In this article, the authors summarize the results of their studies (histological and histochemical examination of muscle biopsies, electron microscopy of skin arteries) and observations (stroke-like episode, A3243G mutation in the mitochondrial genome in a patient with repeat ICA/VA dissections; increased peak lactate during MR spectroscopy in a patient who suffered an ICA dissection, then lobar hemorrhages a few years later). Based on these, the authors propose mitochondrial arteriopathy as the cause of arterial wall dysplasia leading to dissection. This article provides data on the pr...
L.O. Badalyan Neurological Journal, 2020
Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (... more Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (СMD), characterized by genetic heterogeneity and a severe course in most cases. CMD pathogenesis is associated with a partial or complete absence of laminin 2 chains in the basal membrane of muscle fiber caused by a mutation in theLAMA2gene. The clinical manifestations of LAMA2-associated muscular dystrophy vary from severe СMD (СMD 1A) with an early onset to a relatively mild course with a late onset and phenotype of limb-girdle muscular dystrophy. CMD type 1A is characterized by a delay in motor development from the first months of the life (while the vast majority of children do not master the ability to walk independently), facial muscles weakness, ptosis, ophthalmoplegia, spine rigidity, early occurrence of contractures in the shoulder, elbow, hip and knee joints, restrictive respiratory disorders, nutritional problems, such as disorders of swallowing and chewing, gastroesophageal r...
European Journal of Paediatric Neurology, 2015
Morphological newsletter
Supporting of the functional pool of neurons during age-related brain involution is closely relat... more Supporting of the functional pool of neurons during age-related brain involution is closely related to chaperone-mediated autophagy, the main function of which is to provide cellular proteostasis and utilize neurotoxic proteins. Impairment of this type of autophagy underlies the pathogenesis of many age-associated neurodegenerative diseases. In this aspect, it seems relevant to study the relationship between key markers of chaperone-mediated autophagy and their relative contribution to aging and neurodegeneration in order to determine pharmaceutical targets. The aim of the study was to determine the levels of expression of markers of chaperone-mediated autophagy - heat shock protein 70 (HSP70) and lysosome-associated membrane protein type 2A (LAMP2) in neurons of various areas of the human brain during aging. The study was performed on autopsy material of patients whose causes of death were not associated with neurological diseases. Preparations of the cortex of the precentral gyrus...
Human Physiology, 2020
Hypoxia-inducible factors (HIF) are key transcription factors that alter gene expression in hypox... more Hypoxia-inducible factors (HIF) are key transcription factors that alter gene expression in hypoxia, and play a central role in ensuring an adaptive response to low oxygen levels in the brain. This review provides information on the functional role of HIF in adaptive tissue responses, specifically in response to metabolic shifts, in angiogenesis, apoptosis and others, which plays an important role in cell survival under hypoxic conditions. We describe the molecular structure of the main HIF subunits, changes in their expression and decay at normal oxygen levels, as well as in acute and chronic hypoxia, and the factors regulating these changes. Special attention is paid to the role of microRNAs in regulating HIF changes, as well as the interaction of HIF subunits with mitochondrial factors. The role of HIF in neuroprotection and neuroglial adaptive changes is described in detail. The importance of further study of HIF’s physiological role is noted, to obtain new information about the pathogenesis of hypoxic brain injury, including its early stages, which determines the risk of later neurological disease.
The present article provides a modern look at the main mechanisms of resistance to immunosuppress... more The present article provides a modern look at the main mechanisms of resistance to immunosuppressive therapy in patients with nephrotic syndrome. The urgency of the problem is because, in most cases, the molecular basis of steroid-resistant nephrotic syndrome is not known, which has now led to the study of the pharmacokinetic, dynamic and genetic aspects of immunosuppressive drugs used to treat nephrotic syndrome, as well as the possibility of genotyping before treatment. The article deals with mechanisms and causes of resistance to the main immunosuppressive drugs used to treat nephrotic syndrome, which fully reflects the need for further study of pharamcogenomics and pharmacokinetics of this disease. We also consider the possibility of genotyping before treatment, which in the long term will allow us to take into account the patient's genotypic characteristics for the purpose of prescribing optimal regimens for immunosuppressive therapy and for carrying out a personalized...
International Journal of Molecular Sciences, 2021
Aging is associated with a decline in cognitive function, which can partly be explained by the ac... more Aging is associated with a decline in cognitive function, which can partly be explained by the accumulation of damage to the brain cells over time. Neurons and glia undergo morphological and ultrastructure changes during aging. Over the past several years, it has become evident that at the cellular level, various hallmarks of an aging brain are closely related to mitophagy. The importance of mitochondria quality and quantity control through mitophagy is highlighted by the contribution that defects in mitochondria–autophagy crosstalk make to aging and age-related diseases. In this review, we analyze some of the more recent findings regarding the study of brain aging and neurodegeneration in the context of mitophagy. We discuss the data on the dynamics of selective autophagy in neurons and glial cells during aging and in the course of neurodegeneration, focusing on three mechanisms of mitophagy: non-receptor-mediated mitophagy, receptor-mediated mitophagy, and transcellular mitophagy....
Journal of Neuroimmunology, 2021
In this study, we aimed to explore the expression of genes associated with neuroinflammation in p... more In this study, we aimed to explore the expression of genes associated with neuroinflammation in patients with benign and highly active multiple sclerosis (MS) and healthy controls, to define gene signatures associated with MS as well as disease activity and progression. We identified differences in the expression of 89 genes in benign and highly active MS patients and in healthy controls (q < 0.05). Twenty-eight genes related to myeloid cells function, the innate immune response, apoptosis, and autophagy were differentially expressed in patients with benign and highly active MS. Time to second relapse and expanded disability status scale (EDSS) scores were correlated with the expression of genes associated with myeloid cells function, innate immunity, and apoptosis. Our results could indicate the importance of innate immunity-associated pathways in maintaining high disease activity in MS and their crucial role in disease progression.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2017
Адрес для корреспонденции: Балева Лариса Степановна-д.м.н., проф., рук. отдела радиационной экопа... more Адрес для корреспонденции: Балева Лариса Степановна-д.м.н., проф., рук. отдела радиационной экопатологии детского возраста НИКИ педиатрии им. акад. Ю.Е. Вельтищева Сипягина Алла Евгеньевна-д.м.н., гл. научн. сотр. отдела радиационной экопатологии детского возраста НИКИ педиатрии им. акад. Ю.Е. Вельтищева Карахан Наталья Марковна-к.б.н., вед. научн. сотр. отдела радиационной экопатологии детского возраста НИКИ педиатрии им. акад. Ю.Е. Вельтищева Сухоруков Владимир Сергеевич-д.м.н., проф., зав. научно-исследовательской лабораторией общей патологии НИКИ педиатрии им. акад. Ю.Е. Вельтищева Воронкова Анастасия Сергеевна-науч. сотр. научно-исследовательской лабораторией общей патологии НИКИ педиатрии им. акад. Ю.Е. Вельтищева Садыков Арсений Русланович-ординатор РНИМУ им. Н.Н. Пирогова. 125412 Москва, ул. Талдомская, д. 2.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2017
Рассмотрены ключевые проблемы перехода национальной системы здравоохранения на новую платформу пе... more Рассмотрены ключевые проблемы перехода национальной системы здравоохранения на новую платформу персонализированной медицины и, в частности, педиатрии. Во второй части, публикуемой в настоящем номере, анализируются основные механизмы построения новой модели. Представлены основные предпосылки (финансово-экономические, научные фундаментальные и научные прикладные), актуализировавшие в конце прошлого века ее появление и строительство в структуре глобальных трендов развития рынков здравоохранения. Показано, что одним из основных стимулов развития персонализированной медицины является заметный рост индивидуального и общественного спроса на превентивно-профилактические средства и соответствующий инструментарий. Все большую значимость приобретают разработки программ по управлению собственным здоровьем, разрабатываются и внедряются адаптированные к новой платформе бизнес-модели развития (в том числе государственного и частного партнерства). Рассмотрены доказательства того, что прогрессивный сценарий развития модели персонализированной медицины обеспечит значительное снижение расходов на медицинское обеспечение. Большой раздел статьи посвящен развитию положения о том, что понимание и осознание современным государством, врачебной аудиторией и индивидуумом-гражданином значимости охраны и управления собственным здоровьем,-важнейший аспект образовательной и просветительской деятельности врача и медицинской сестры. Детально рассмотрены перспективы персонализированной педиатрии как глобального инструмента реструктуризации всей системы здравоохранения.
Journal of Epileptology, 2017
Summary. There are some genetic disorders with combination of mental retardation, epilepsy and au... more Summary. There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the disturbances of the m-TOR pathway can also be detected in Rett syndrome (RS), Fragile X syndrome and Down syndrome. We describe the rare case of co-occurrence of TSC and RS.. The female child was born at term by normal delivery after a non-complicated pregnancy. Family history was negative for epilepsy and mental retardation. The neonatal period was uneventful and psychomotor development was normal before the child became 1.5 years old. At the age of 18 months the girl developed hand-wringing stereotypes, facial hypotonia, ataxia and gait apraxia. She lost eye-to-eye contact and verbal contact with relatives, and became indifferent to the surrounding environment. When she was 2 years old, focal adversive seizures started which w...
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Широко известно, что мутации митохондриальной ДНК могут оказывать существенное влияние на развити... more Широко известно, что мутации митохондриальной ДНК могут оказывать существенное влияние на развитие и течение различных мультисистемных заболеваний. Однако митохондриальный геном крайне вариабелен, даже при отсутствии патологических мутаций, он несет в себе важные индивидуальные черты. Некоторые полиморфизмы митохондриальной ДНК закреплены наследованием на протяжении тысяч лет, они филогенетически развивались по мере расселения человечества. В настоящее время эти полиморфизмы систематизированы в так называемые гаплогруппы. Целью настоящего обзора явился анализ литературы последних лет, посвященной взаимосвязи наследственного паттерна митохондриального генома (т.е. гаплогрупп) с фенотипическими особенностями. Структура митохондриальной ДНК фенотипически может проявляться как физиологические особенности организма, предрасположенность к тому или иному виду спортивной нагрузки, долгожительство. С другой стороны, индивидуальная структура митохондриальной ДНК может влиять на риск развития метаболических расстройств, заболеваний мозга, иммунной системы, психических заболеваний, воспалительных процессов и сепсиса. Многие исследования посвящены влиянию особенностей митохондриальной ДНК на предрасположенность к раку и течение этого заболевания. Отдельного внимания заслуживает влияние особенностей структуры митохондриального генома на чувствительность к различным видам лечения: трансплантация, антиретровирусная терапия и др. В настоящем обзоре не только выделены наиболее интересные исследования последних лет, но и рассматриваются современные методологические подходы к изучению митохондриальных гаплогрупп. В связи с глобальной разрозненностью результатов анализа гаплогрупп на сегодняшний день крайне важно максимально широкое освещение проводимых исследований.
Эозинофилы-лейкоциты, которые в большом количестве накапливаются в области аллергического 1 Узелк... more Эозинофилы-лейкоциты, которые в большом количестве накапливаются в области аллергического 1 Узелки, эозинофилия, ревматизм, дерматит, опухоль.
Voprosy okhrany materinstva i detstva
Адрес для корреспонденции: Виноградова Татьяна Владимировна-к.м.н., в.н.с. научно-исследовательск... more Адрес для корреспонденции: Виноградова Татьяна Владимировна-к.м.н., в.н.с. научно-исследовательской лаборатории общей патологии НИКИ педиатрии Сухоруков Владимир Сергеевич-д.м.н., проф., зав. той же лабораторией Ружицкая Елена Апполосовна-к.м.н., в.н.с. той же лаборатории Пампура Александр Николаевич-д.м.н., зав. отделением аллергологии и клинической иммунологии того же учреждения Чусляева Анна Андреевна-н.с. того же отделения Варламов Евгений Евгениевич-к.м.н., ст.н.с. того же отделения 125412 Москва, ул. Талдомская, д. 2
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The paper deals with damage to the central nervous system and skeletal muscles in MELAS syndrome.... more The paper deals with damage to the central nervous system and skeletal muscles in MELAS syndrome. It gives data on the specific features of inheritance of the syndrome. The genes whose mutations lead to the development of the disease are indicated. The pathophysiological mechanisms and sequels of stroke-like episodes are described. The authors present the results of an original study of the pathological changes in skeletal muscles in children with MELAS syndrome and their mothers. They describe the pathophysiological paradox of MELAS, which provides an explanation for the occurrence of cerebrovascular disorders and the severity of the course of the disease. There is a rationale for L-arginine treatment in central nervous system lesion. Data on drug therapy for MELAS syndrome are given.
Journal of Pediatric Endocrinology and Metabolism, 2015
Carnitine is necessary for the transfer of long-chain fatty acids from the cytosol into mitochond... more Carnitine is necessary for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A carnitine deficiency results in impaired energy production from fatty acids.We reviewed the plasma level of total carnitine, free carnitine, and acylcarnitines in 1270 children with psychomotor retardation, low growth, and weight parameters. Tandem mass spectrometry (MS/MS) was applied. Low free carnitine level in plasma was used as a marker of carnitine deficiency.A total of 102 (8%) children had free carnitine level <19 μmol/L (norm 19–60 μmol/L). As a result of the subsequent investigation, hereditary diseases were diagnosed in 76 (¾) children and out of that 19 had very low free carnitine plasma level (<10 μmol/L). Fanconi syndrome, fat oxidation defects, primary systemic carnitine deficiency, mitochondrial encephalomyopathy, and Noonan syndrome were revealed in these 19 children.Efficacy of levocarnitine treatment in children with very low fre...