A5080706648- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- RNA Research and Splicing
- Cardiomyopathy and Myosin Studies
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Congenital heart defects research
- Ion channel regulation and function
- Ubiquitin and proteasome pathways
- Cardiac electrophysiology and arrhythmias
Research Centre for Medical Genetics
2021-2025
Ministry of Health of the Russian Federation
2020
ABSTRACT Spinal muscular atrophy 5q (5q SMA) is one of the most prevalent autosomal recessive disorders globally. The underlying cause SMA attributed to variants in SMN1 . Exon 7 not detectable major probands with SMA, and minor have a combination deletion an intragenic subtle variant second allele. From 1991 2023, DNA samples from 2796 representing unrelated families were analyzed at Research Centre for Medical Genetics diagnosis SMA. copy number SMN2 was determined all by MLPA....
5q spinal muscular atrophy (5q SMA) is one of the most common autosomal recessive disorders in Russian Federation. The first medication to treat SMA was registered Federation for treatment all types 2019, and last three currently available December 2021. We launched pilot newborn screening (NBS) program Moscow, Federation, starting 2019. During program, 23,405 neonates were tested deletion exon 7 SMN1 gene, cause SMA. used SALSA® MC002 Newborn Screen Kit (MRC Holland) specifically detect...
Myotonic dystrophy type 1 (DM1) is a multisystem disorder with progressive myopathy and myotonia. The clinical study was conducted in the Republic of North Ossetia-Alania (RNOA), it 39 individuals from 17 unrelated families were identified DM1. Clinical presentations varied, including muscle weakness, fatigue, intellectual disability, hypersomnia, ophthalmological abnormalities, alopecia. Using genotyping data, we confirmed diagnosis enabled CTG-repeat anticipation DM1 prevalence Ossetian...
During the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from 1,227,130 out of 1,256,187 newborns Russian Federation order to detect 5q spinal muscular atrophy (5q SMA). Within 253-sample risk group formed based on results first stage, 5 showed a discrepancy between examination via various methods and quantitative MLPA (used as reference). The was caused by presence either c.835-18C>T intronic variant or c.842G>C p.(Arg281Thr) missense SMN1 gene,...
X-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital predominantly affects males. study presents case myotubular female carrier c.1261-10A>G variant gene.
A clinical description of a 28-year-old man with spinal and bulbar muscular atrophy diagnosed on the basis CAG-trinucleotide expansion in gene coding androgen receptor is presented. He exhibited skeletal muscles tongue fasciculations, gynecomastia, increased serum testosterone creatine kinase levels. The peculiarities case were gynecomastia under age 7, development fasciculations at 11 appearance hard muscle stiffness delayed relaxation after voluntary contraction 15, which resembled typical...