A5082486399- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- RNA modifications and cancer
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Retinal Development and Disorders
- Biomedical Research and Pathophysiology
- Genetic factors in colorectal cancer
- Biochemical and Molecular Research
- Cell death mechanisms and regulation
- Neurological diseases and metabolism
- Drug-Induced Ocular Toxicity
- Genital Health and Disease
- RNA and protein synthesis mechanisms
- Trace Elements in Health
- Protein Tyrosine Phosphatases
- GDF15 and Related Biomarkers
- RNA regulation and disease
- Metabolomics and Mass Spectrometry Studies
- Connexins and lens biology
- Urinary Bladder and Prostate Research
- Redox biology and oxidative stress
- Systemic Lupus Erythematosus Research
- Peripheral Neuropathies and Disorders
Research Centre for Medical Genetics
2016-2025
Medizinische Hochschule Hannover
2023
Sechenov University
2022
Moscow Region State University
2020
Saint Petersburg State Pediatric Medical University
2004
City Clinical Oncology Center
2004
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion individuals with suspected Mendelian disorder without genetic diagnosis after whole genome or exome sequencing (WES). Research studies advocate to further sequence transcriptomes directly and systematically probe gene expression defects. However, collection additional biopsies establishment lab workflows, analytical pipelines, defined concepts in clinical interpretation aberrant are...
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was first to be genetically defined by a point mutation in DNA (mtDNA). A molecular diagnosis achieved up 95% of cases, vast majority which are accounted for 3 mutations within complex I subunit–encoding genes mtDNA (mtLHON). Here, we resolve enigma LHON absence pathogenic mutations. We describe biallelic nuclear encoded gene, DNAJC30, 33 unsolved patients from 29 families establish an autosomal...
The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited broadened genetic spectrum syndrome, most frequent paediatric mitochondrial disease. Herein, we characterize 28 so far unreported individuals from 26 families carrying a homozygous p.Tyr51Cys founder variant, 24 manifesting with LHON, two remaining asymptomatic. This collection variant...
Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates diagnosis. In this article, we present clinical and molecular findings of 219 patients LS give detailed description three cases rare nuclear MORC2, NARS2 VPS13D, demonstrating wide genetic heterogeneity disease. The common cause Russian are pathogenic variants SURF1 gene...
Background and Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%–16%) inherited metabolic diseases (14%–28%). Yet, in up to 50% of cases underlying etiology remains elusive, challenging clinical management, including transplantation. We systematically studied indeterminate PALF referred for genetic evaluation by whole-exome sequencing (WES), analyzed phenotypic biochemical markers, diagnostic yield WES this...
The m.13513G>A (p.Asp393Asn) substitution in the MT-ND5 (Mitochondrially Encoded NADH/Ubiquinone Oxidoreductase Core Subunit 5) gene is a common pathogenic variant associated with primary mitochondrial disorders. It frequently causes Leigh syndrome and encephalomyopathy lactate acidosis stroke-like episodes (MELAS). In this study, we present clinical data, heteroplasmy levels various tissues (blood, urine, skin fibroblasts), bioenergetic characteristics from cohort of 20 unrelated...
To investigate the features of various parameters density retinal blood vessels, optic nerve head (ONH) and peripapillary region in hereditary neuropathy (HON) patients revealed with optical coherence tomography angiography (OCTA).The study included 29 HON divided into three groups based on symptoms duration (less than 1 year; 1-5 years, more 5 years) visual acuity (0.5-1.0; 0.04-0.4; 0.03 lower). Relative macular, disc vessel (VD, %) was assessed by OCTA (xR Avanti, Optovue Inc.,...
The study analyses data from clinical and genetic examination of 114 patients, as well cytological skin fibroblasts 20 patients with hereditary optic neuropathy (HON). revealed HON symptoms in all primary damage the retinal ganglion cells accompanied by swelling peripapillary nerve fiber layer (RNFL) acute stage disease was observed 47% cases. MtDNA mutations that cause development Leber (LHON) were detected 73% cases, including three frequent 59% rare candidate - 14% cases; nDNA associated...
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion cases with suspected Mendelian disorder without genetic diagnosis after genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes directly and systematically probe gene expression defects. However, collection additional biopsies, establishment lab workflows, analytical pipelines, defined concepts in clinical interpretation aberrant are still...
Despite the wide range of clinical, instrumental and laboratory methods used in modern ophthalmology, problem diagnosing optic neuropathy identifying its etiology remains relevant. A complex multidisciplinary approach involving various specialists is required differential diagnosis immune-mediated neuritis, for example multiple sclerosis, neuromyelitis optica spectrum disorder, MOG-associated diseases. Of special interest demyelinating diseases central nervous system, hereditary neuropathies...
Patients with Leber Hereditary Optic Neuropathy (LHON) in most cases have one of the three common mutations: m.11778G>A
Актуальность.Наследственная оптическая нейропатия Лебера (НОНЛ) и аутосомнорецессивная (АРОН) характеризуется выраженным снижением остроты зрения (ОЗ) в результате развития частичной атрофии зрительных нервов. Однако отдаленном периоде возможно улучшение ОЗ, степень которого зависит от сохранности перипапиллярного слоя нервных волокон сетчатки генетического варианта НОНЛ АРОН. Цель.Оценить конечную ОЗ при АРОН различных мутациях мтД-НК яДНК. Материал методы.В исследование включено 100...