A5056474422- Muscle Physiology and Disorders
- Tissue Engineering and Regenerative Medicine
- Cardiomyopathy and Myosin Studies
- Mitochondrial Function and Pathology
- Adipose Tissue and Metabolism
- CRISPR and Genetic Engineering
- Nutrition and Health in Aging
- Metabolism and Genetic Disorders
- Cardiac Fibrosis and Remodeling
- Genetic Neurodegenerative Diseases
- Glycogen Storage Diseases and Myoclonus
- Inflammatory Myopathies and Dermatomyositis
- Virus-based gene therapy research
Research Institute of Human Morphology
2025
Ministry of Health of the Russian Federation
2022-2023
North-Western State Medical University named after I.I. Mechnikov
2022
Our abstract is 257 words long. The website requirements state: "Please note that your should be no more than 300 words". However, the online form does not allow us to upload abstract, even though it fits within specified limit
Dysferlinopathy represents an orphan disease within the spectrum of progressive muscular dystrophies, occurring at a frequency 1 to 9 cases per 1.000.000 individuals (Orphanet, 2024). It arises from mutations in DYSF gene (OMIM 603009, 2p13, NM_003494.4), which is responsible for coding transmembrane protein dysferlin. Dysferlin plays critical role repair muscle fiber membranes and cellular processes skeletal regeneration. Although molecular mechanisms dysferlin-mediated are under active...
Dysferlinopathy treatment is an active area of investigation. Gene therapy one potential approach. We studied muscle regeneration and inflammatory response after injection AAV-9 with a codon-optimized DYSF gene. A dual-vector system AAV.DYSF.OVERLAP overlapping cDNA sequences was generated. Two AAV vectors were separately assembled by standard triple-transfection protocol from plasmids carrying parts the Artificial myoblasts dysferlin-deficient fibroblasts obtained MyoD overexpression....
The aim of the work was behavioral and pathomorphological phenotyping mice knockout for DYSF gene, which plays an important role in development progression dysferlinopathy. Materials methods. A B6.A-Dysf prmd /GeneJ (Bla/J) subline used work. During study, a muscle activity determined basing on following tests: “Inverted grid”, “Grip strength”, “Wire Hanging”, “Weight-loaded swimming”, Vertical Pole”. Histological immunofluorescent examinations skeletal muscles (m. gastrocnemius, m....
Mitochondrial neurogastrointestinal encephalomyopathy is an extremely rare (1–9:1 000 000, Orphanet, 2021) multisystem genetic disease caused by mutations in the TYMP gene encoding enzyme thymidine phosphorylase.The article presents data of a thirteen‑year survey on 40‑year‑old patient D. with clinical manifestations mitochondrial syndrome associated previously undescribed missense mutation c.1301G>T (p.Gly434Val) gene. Detailed picture (gastrointestinal dysfunction, cachexia,...
Differential diagnosis of inflammatory myopathies with hereditary muscular dystrophies accompanied by a secondary process is time‑consuming clinical and pathomorphological task. In particular, false polymyositis in patients dysferlinopathy reaches 25 % cases.A 40‑year‑old female patient limb‑girdle phenotype dysferlinopathy, initially diagnosed as polymyositis, presented. The reasons that led to the erroneous were: sporadic case; subacute onset; proximal muscle weakness; myalgia, which...