Maria Giralt | Universitat Autònoma de Barcelona (original) (raw)

Papers by Maria Giralt

Research Square (Research Square), Dec 31, 2023

The expression of Neuritin-1 (NRN1), a neurotrophic factor crucial for neurodevelopment and synap... more The expression of Neuritin-1 (NRN1), a neurotrophic factor crucial for neurodevelopment and synaptic plasticity, is enhanced by the Brain Derived Neurotrophic Factor (BDNF). Although the receptor of NRN1 remains unclear, it is suggested that NRN1's activation of the insulin receptor (IR) pathway promotes the transcription of the calcium voltage-gated channel subunit alpha1 C (CACNA1C). These three genes have been independently associated with schizophrenia risk, symptomatology, and brain differences. However, research on how they synergistically modulate these phenotypes is scarce. We aimed to study whether the genetic epistasis between these genes affects the risk and clinical presentation of the disorder via its effect on brain structure. First, we tested the epistatic effect of NRN1 and BDNF or CACNA1C on i) the risk for SZ, ii) clinical symptoms severity and functionality (onset, PANSS, CGI and GAF), and iii) brain cortical structure (thickness, surface area and volume measures estimated using FreeSurfer) in a sample of 86 SZ patients and 89 healthy subjects. Second, we explored whether those brain clusters in uenced by epistatic effects mediate the clinical pro les. Although we did not nd a direct epistatic impact on the risk, our data unveiled signi cant effects on the disorder's clinical presentation. Speci cally, the NRN1-rs10484320 x BDNF-rs6265 interplay in uenced PANSS general psychopathology, and the NRN1-rs4960155 × CACNA1C-rs1006737 interaction affected GAF scores. Moreover, several interactions between NRN1 SNPs and BDNF-rs6265 signi cantly in uenced the surface area and cortical volume of the frontal, parietal, and temporal brain regions within patients. The NRN1-rs10484320 × BDNF-rs6265 epistasis in the left lateral orbitofrontal cortex fully mediated the effect on PANSS general psychopathology. Our study not only adds clinical signi cance to the well-described molecular relationship between NRN1 and BDNF but also underscores the utility of deconstructing SZ into biologically validated brain-imaging markers to explore their meditation role in the path from genetics to complex clinical manifestation.

BMC Pregnancy and Childbirth

Background Covid-19 pandemic became an unexpected stressor for the entire population and, particu... more Background Covid-19 pandemic became an unexpected stressor for the entire population and, particularly, for pregnant women and lactating mothers. The alarming infectious risk together with the lockdown period could affect the emotional state of mothers-to-be, as well as breastfeeding rates, mother-baby bonding, or neonatal weight gain. The aim of this study is to describe the impact of this world health emergency in mother-baby pairs right after the first wave of Sars-Cov-2 pandemic (from March to May 2020). Study design A prospective observational study was carried out in mother–child dyads from those women who gave birth between June and August 2020 in a tertiary hospital. 91 mother-baby pairs were initially enrolled and 56 of them completed the follow-up. The study design had two separate steps: i) Step one: A clinical interview plus three psychometric tests (EPDS: Edinburgh Postnatal Depression Scale, PBQ: Postpartum Bonding Questionnaire and STAI-S: State-Trait Anxiety Inventor...

International Journal of Molecular Sciences

Included in the neurotrophins family, the Neuritin 1 gene (NRN1) has emerged as an attractive can... more Included in the neurotrophins family, the Neuritin 1 gene (NRN1) has emerged as an attractive candidate gene for schizophrenia (SZ) since it has been associated with the risk for the disorder and general cognitive performance. In this work, we aimed to further investigate the association of NRN1 with SZ by exploring its role on age at onset and its brain activity correlates. First, we developed two genetic association analyses using a family-based sample (80 early-onset (EO) trios (offspring onset ≤ 18 years) and 71 adult-onset (AO) trios) and an independent case–control sample (120 healthy subjects (HS), 87 EO and 138 AO patients). Second, we explored the effect of NRN1 on brain activity during a working memory task (N-back task; 39 HS, 39 EO and 39 AO; matched by age, sex and estimated IQ). Different haplotypes encompassing the same three Single Nucleotide Polymorphisms(SNPs, rs3763180–rs10484320–rs4960155) were associated with EO in the two samples (GCT, TCC and GTT). Besides, th...

Acta Psychiatrica Scandinavica, 2021

Objective: To determine how mental disorders and psychopharmacological treatments before and duri... more Objective: To determine how mental disorders and psychopharmacological treatments before and during COVID-19 hospital admissions are related to mortality. Methods: Subjects included in the study were all adult patients with a diagnosis of COVID-19, confirmed clinically and by PCR, who were admitted to a tertiary university hospital in Badalona (Spain) between March 1 and November 17, 2020. Data were extracted anonymously from computerized clinical records. Results: 2,150 subjects were included, 57% males, mean age 61 years. History of mental disorders was registered in 957 (45%). Throughout admission, de novo diagnosis of mood or anxiety, stress, or adjustment disorder was made in 12% of patients without previous history. Delirium was diagnosed in 10% of cases. 1011 patients (47%) received a psychotropic prescription during admission (36% benzodiazepines, 22% antidepressants, and 21% antipsychotics). Mortality rate was 17%. Delirium during admission and history of mood disorder were independently associated with higher mortality risk (hazard ratios, 1.39 and 1.52 respectively), while previous year's treatments with anxiolytics/hypnotics and antidepressants were independently associated with lower mortality risk (hazard ratios, 0.47 and 0.43, respectively). Conclusion: Mental symptoms are very common in patients hospitalized for COVID-19 infection. Detecting, diagnosing, and treating them is key to determining the prognosis of the disease and functional recovery.

The World Journal of Biological Psychiatry, 2015

Objectives: Neuritin 1 gene (NRN1) is involved in neurodevelopment processes and synaptic plastic... more Objectives: Neuritin 1 gene (NRN1) is involved in neurodevelopment processes and synaptic plasticity and its expression is regulated by brain-derived neurotrophic factor (BDNF). We aimed to investigate the association of NRN1 with schizophrenia-spectrum disorders (SSD) and bipolar disorders (BPD), to explore its role in age at onset and cognitive functioning, and to test the epistasis between NRN1 and BDNF. Methods: The study was developed in a sample of 954 SSD/BPD patients and 668 healthy subjects. Genotyping analyses included 11 SNPs in NRN1 and one functional SNP in BDNF. Results: The frequency of the haplotype CC (rs645649-rs582262) was significantly increased in patients compared to controls (P ¼ 0.0043), while the haplotype T-CC -T-C-A (rs3763180-rs10484320-rs4960155-rs9379002-rs9405890-rs1475157) was more frequent in controls (P ¼ 3.1 Â 10 À5). The variability at NRN1 was nominally related to changes in age at onset and to differences in intelligence quotient, in SSD patients. Epistasis between NRN1 and BDNF was significantly associated with the risk for SSD/BPD (P ¼ 0.005). Conclusions: Results suggest that: (i) NRN1 variability is a shared risk factor for both SSD and BPD, (ii) NRN1 may have a selective impact on age at onset and intelligence in SSD, and (iii) the role of NRN1 seems to be not independent of BDNF.

Background: Covid-19 pandemic became an unexpected stressor for the entire population and, partic... more Background: Covid-19 pandemic became an unexpected stressor for the entire population and, particularly, for pregnant women and lactating mothers. The alarming infectious risk together with the lockdown period could affect the emotional state of mothers-to-be, as well as breastfeeding rates, mother-baby bonding, or neonatal weight gain. The aim of this study is to describe the impact of this world health emergency in mother-baby pairs right after the first wave of Sars-Cov-2 pandemic (from March to May 2020). Study design: a prospective observational study was carried out in mother-child dyads from those women who gave birth between June and August 2020 in a tertiary hospital. 91 mother-baby pairs were initially enrolled and 56 of them completed the follow-up. The study design had two separate steps: i) Step one: A clinical interview plus three psychometric tests (EPDS: Edinburgh Postnatal Depression Scale, PBQ: Postpartum Bonding Questionnaire and STAI-S: State-Trait Anxiety Invent...

Revista De Psiquiatria De La Facultad De Medicina De Barcelona, 2004