Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness (original) (raw)
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Brain anomalies in maternally inherited diabetes and deafness syndrome
Journal of Neurology, 2009
Maternally inherited diabetes and deafness (MIDD) and myoencephalopathy, lactic acidosis, strokelike episodes (MELAS) syndromes are characterized by the same A3243G mutation of mitochondrial DNA (mtDNA). Should there be a link between these two clinical entities, one could expect to observe minor signs of MELAS in MIDD patients. To examine this issue, extensive evaluations of brain function and imaging in patients with mitochondrial diabetes and in age-matched type 1 diabetic patients were conducted and compared. MIDD patients (nine A3243G, two T14709G) and nine age-matched type 1 diabetic patients (T1D) were submitted for evaluation of cognitive functions, brain magnetic resonance (MR) imaging, and 1 H-MR spectroscopy. Three MIDD patients exhibited cerebellar ataxia. The MIDD group exhibited poorer performances in sustained attention, verbal memory working, and abstract reasoning procedures, in comparison with the T1D group. MR imaging showed cerebellar atrophy in seven out of ten MIDD patients (versus 3 mild/8 in T1D controls) and basal ganglia calcifications in one MIDD patient. No evidence of (sub)acute stroke was detected. White-matter anomalies were observed in both groups (50%). 1 H-MR spectroscopy revealed a significant decrease of N-acetyl aspartate only in vermis in the MIDD group, suggesting functional defect and/or neuronal loss. Lactate was detected in cerebrospinal fluid (CSF) in two MIDD and one T1D patient. Typical manifestations of MELAS are rare in MIDD syndrome, suggesting two different clinical entities. However, cerebellum involvement as assessed by imaging and 1 H-MR spectroscopy is shared by both phenotypes.
Macular pattern dystrophy in MIDD: Long-term follow-up
Diabetes & Metabolism, 2008
A case of maternally inherited diabetes and deafness (MIDD)-associated macular pattern dystrophy with a 15-year follow-up is reported. On initial examination at age 37, visual acuity was normal, but chorioretinal atrophy at the posterior pole was already present in both eyes. At age 52, visual acuity remained normal in the right eye and was only slightly decreased in the left eye despite notable extension of the areas of chorioretinal atrophy in that eye. No evidence of diabetic retinopathy was present at any time. This case shows that visual acuity can remain stable in the long term despite extensive lesions of macular pattern dystrophy.
Diabetes Research and Clinical Practice, 2004
We report on a case of a 48-year-old woman presenting with maternally inherited diabetes mellitus and deafness (MIDD) syndrome. Molecular genetic analysis and clinical evaluation were conducted in the patient and her 4 children to investigate the interrelation between an MIDD-associated mitochondrial DNA (mtDNA) mutation and clinical manifestations. Various symptoms and markers of MIDD, including seizures, migraines, short stature, mental retardation, and stroke-like episodes, were reviewed. Diabetes mellitus (DM) was studied by oral glucose tolerance and glucagon stimulation tests. Hearing impairment was determined by standard hearing tests and a brainstem auditory evoked potential test. The A3243G and T3271C transitional mutations of mtDNA were investigated from muscle and/or leukocytes and hair follicles. Mitochondrial-related symptoms were not found in the children, although they all harbored a heteroplasmic A3243G transition of mtDNA, as detected in screened samples. For the patient, the proportion of mutant mtDNA was highest in muscle cells followed by hair follicles and then leukocytes. Moreover, the proportion of mutant mtDNA was also higher in hair follicles than in leukocytes for asymptomatic family members. This Taiwanese MIDD family was found to have the A3243G point mutation as revealed from molecular genetic studies of leukocytes, hair follicles, and muscle tissue. However, no correlation was found between the proportion of mutant mtDNA and clinical features of any family member. (Chang Gung Med J 2004;27:66-73)
Endocrine Practice, 2019
Objective: Maternally Inherited Diabetes and Deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA (mtDNA), mt3243 A>G. The objective of this paper is to review the genetic inheritance, the clinical manifestations and the treatment of patients with MIDD. Methods: The current review used a literature search of scientific papers on this rare syndrome. Results: MtDNA is primarily inherited through the maternal oocyte, therefore the genetic abnormalities in MIDD are associated with maternal inheritance. Mitochondria contain circular mtDNA which codes for various mitochondrial genes. The mtDNA can be heteroplasmic, containing more than one type of mtDNA sequence; if one of the mtDNAs contains the mt3243A>G mutation, a patient may develop MIDD. Patients can inherit different amounts of mutated mtDNA and normal mtDNA that effect the severity of the clinical manifestations of MIDD. The most common clinical manifestations include diabete...
Journal of Diabetes and its Complications, 2017
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations in both nuclear and mitochondrial DNA. In fact, mitochondrial DNA (mtDNA) defects are known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Our study reported a Tunisian family with clinical features of maternally inherited diabetes and deafness (MIDD). Accordingly, we performed a whole mitochondrial genome mutational analysis, results revealed a haplotype composed by "A750G, A1438G, G8860A, T12705, T14766C and T16519C", in homoplasmic state, in the mother and transmitted to her daughter and her son. The patient with MIDD2 and retinopathy presented, in addition to this haplotype associated to the MIDD, two de novo variations including a novel one m.8241 T N G (p. F219C) in MT-CO2 gene and a known one m.13276G N A (p. M314 V) in MT-ND5 gene. The coexistence of these two mutations could explain the retinopathy observed in this patient.