Publications by authors named "Mikhail Fedyakov"
(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by impaired bone mineral metabolism due to the low enzymatic activity of TNSALP. Knowledge about the structure of the gene and the features and functions of various ALPL gene variants, taking into account population specificity, gives an understanding of the hereditary nature of the disease, and contributes to the diagnosis, prevention, and treatment of the disease.
View Article and Find Full Text PDFFamilial hypercholesterolemia (FH) is caused by mutations in various genes, including the , and genes; however, the spectrum of these mutations in Russian individuals has not been fully investigated. In the present study, mutation screening was performed on the gene and other FH-associated genes in patients with definite or possible FH, using next-generation sequencing. In total, 59 unrelated patients were recruited and sorted into two separate groups depending on their age: Adult (n=31; median age, 49; age range, 23-70) and children/adolescent (n=28; median age, 11; age range, 2-21).
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- The study investigates the role of genetic variants in the susceptibility and severity of COVID-19 using a large dataset (gnomAD) and a group of 37 Russian patients.
- It finds slight differences in allele frequencies among European populations, particularly noting that Southern Europeans have fewer missense variants.
- While common genetic variants do not significantly impact COVID-19 severity, some rare variants may influence disease outcomes, suggesting genetics play a role in varying COVID-19 severity.
According to modern classification, there are two forms of inherited ichthyoses: syndromic and non-syndromic, each of them consists of more than ten different nosologies. The commonest types of the ichthyosis are X-linked recessive (prevalence 1/2000-6000 in men) and autosomal dominant, or ichthyosis vulgaris with incomplete penetrance (1/250-1000). The X-linked form is associated with mutations in steroid sulfatase STS gene, it is noteworthy that there is a full deletion of the gene in 90% of cases.
View Article and Find Full Text PDFBackground: Wilson's disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contradictory. The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients.
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- - The study investigated genetic variants responsible for monogenic diabetes in 60 Russian children diagnosed with non-type 1 diabetes before age 18, utilizing whole-exome sequencing across 35 genes associated with MODY and neonatal diabetes.
- - Researchers identified 38 genetic variants in 55% of patients, with a significant majority linked to MODY-related genes, particularly GCK, while a smaller group had variants in MODY-unrelated genes.
- - The findings suggest a high occurrence of various genetic variants, emphasizing the importance of starting monogenic diabetes diagnostics in Russian children with GCK testing, while also highlighting the effectiveness of whole-exome sequencing for identifying rare variants.
Article Synopsis
- Allele frequency data from large projects like gnomAD are crucial for understanding genetic variations in different populations, but they often overlook underrepresented groups, like the Russian population.
- Researchers analyzed a dataset of 694 exome samples from Northwest Russia to compare genetic variants and estimate the prevalence of autosomal recessive disease alleles.
- Findings revealed that many variants were unique to this population, with notable overrepresentation of pathogenic variants linked to Mendelian disorders, highlighting the importance of localized allele frequency data for diagnosing genetic diseases.