Библиографическое описание:Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes : научное издание / I. O. Bychkov [et al.]. - Текст : непосредственный // Mitochondrion. - 2021. - Т. 57, № . - P. 205-212. - ISSN 1567-7249. - ISSN 1872-8278, DOI 10.1016/j.mito.2021.01.004.
Аннотация:Currently, pathogenic variants in more than 25 nuclear genes, involved in mtDNA maintenance, are associated with human disorders. mtDNA maintenance disorders manifest with a wide range of phenotypes, from severe infantile-onset forms of myocerebrohepatopathy to late-onset forms of myopathies, chronic progressive external ophthalmoplegia, and parkinsonism. This study represents the results of molecular genetic analysis and phenotypes of 102 probands with mtDNA maintenance disorders. So far, this is the largest Russian cohort for this group of diseases. Mutations were identified in 10 mtDNA maintenance genes: POLG (n = 59), DGUOK (n = 14), TWNK (n = 14), TK2 (n = 8), MPV17 (n = 2), OPA3 (n = 1), FBXL4 (n = 1), RRM2B (n = 1), SUCLG1 (n = 1) and TYMP (n = 1). We review a mutation spectrum for the DGUOK and TWNK genes, that can be specific for the Russian population. In 34 patients we measured the blood mtDNA copy number and showed its significant reduction. Novel variants were found in 41 cases, which significantly expands the mutational landscape of mtDNA maintenance disorders.
Издательство:Elsevier Science Publishing Company, Inc.
Источник:Mitochondrion
Выпуск:Т. 57
Номера страниц:205-212
Держатель оригинала документа:Kulakov Natl Med Res Ctr Obstet Gynecol & Perinat, Medical center “Zdorovii Rebenok” Ltd, Morozov Children's City Clin Hosp, Research Center of Neurology, Research Centre for Medical Genetics, Russian Children's Hosp Med Genet Dept, Sechenov First Moscow State Medical University (Sechenovskiy University), Semantic Hub, Veltishchev Research Clinical Institute of Pediatrics Pirogov Russian National Research Medical University
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