Тип публикации: статья из журнала

Год издания: 2021

Идентификатор DOI: 10.1016/j.mito.2021.01.004

Ключевые слова: Mitochondrial depletion syndrome, Mitochondrial DNA copy number, Mitochondrial replication, mutations, nuclear genes, qPCR

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 ophthalmopПоказать полностьюlegia, 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.

Журнал: Mitochondrion

Выпуск журнала: Т. 57

Номера страниц: 205-212

ISSN журнала: 15677249

Издатель: Elsevier Science Publishing Company, Inc.

• Bychkov I.O. (Research Centre for Medical Genetics)
• Itkis Y.S. (Research Centre for Medical Genetics)
• Tsygankova P.G. (Research Centre for Medical Genetics)
• Krylova T.D. (Research Centre for Medical Genetics)
• Dadali E.L. (Research Centre for Medical Genetics)
• Rudenskaya G.E. (Research Centre for Medical Genetics)
• Zakharova E.Y. (Research Centre for Medical Genetics)
• Mikhaylova S.V. (Russian Children's Hosp Med Genet Dept)
• Nikolaeva E.A. (Veltishchev Research Clinical Institute of Pediatrics Pirogov Russian National Research Medical University)
• Pechatnikova N.L. (Morozov Children's City Clin Hosp)
• Degtyareva A.V. (Sechenov First Moscow State Medical University (Sechenovskiy University))
• Klyushnikov S.A. (Research Center of Neurology)
• Seliverstov Y.A. (Research Center of Neurology)
• Illarioshkin S.N. (Research Center of Neurology)
• Kurbatov S.A. (Medical center “Zdorovii Rebenok” Ltd)

• Ядро РИНЦ (eLIBRARY.RU)