perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2016-61-3-51-57perinatology-325Research ArticleНАСЛЕДСТВЕННЫЕ БОЛЕЗНИHEREDITARY DISEASESПолиморфизм клинических проявлений прогрессирующей митохондриальной энцефаломиопатии, ассоциированной с мутацией гена POLG1Polymorphism of the clinical manifestations of progressive mitochondrial encephalomyopathy associated with POLG1 gene mutationЯблонскаяМ. И.YablonskayaM. I.

к.м.н., ст. н. сотр. отдела психоневрологии и наследственных заболеваний с нарушением психики,

125412 Москва, ул. Талдомская, д. 2

 

Moscow

НиколаеваЕ. А.NikolaevaE. A.

д.м.н., гл. н. сотр. психоневрологии и наследственных заболеваний с нарушением психики,

125412 Москва, ул. Талдомская, д. 2

Moscow

ШаталовП. А.ShatalovP. A.

к.б.н., н. сотр. научно-исследовательской лаборатории общей патологии,

125412 Москва, ул. Талдомская, д. 2

Moscow

ХарабадзеМ. Н.KharabadzeM. N.

к.м.н., зав. отделением наследственных и врожденных заболеваний с поражением центральной нервной системы и нарушением психики,

125412 Москва, ул. Талдомская, д. 2

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии имени академика Ю.Е. Вельтищева» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава РФРоссияAcademician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian FederationRussian Federation2016020720166135157Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/325

Распространенной причиной митохондриальных болезней являются мутации в гене POLG1, кодирующем каталитическую субъединицу ДНК-полимеразы гамма, отвечающей за репликацию и репарацию митохондриальной ДНК. Заболевания, ассоциированные с дефектами гена POLG1, характеризуются выраженным клиническим полиморфизмом и могут напоминать отдельные митохондриальные синдромы, а также другие болезни наследственной и ненаследственной природы, что создает трудности диагностики. Другая характерная особенность заключается в разнообразии фенотипических проявлений у разных больных, имеющих одну и ту же мутацию в гене POLG1. В статье представлено описание митохондриальной энцефаломиопатии, обусловленной гомозиготной мутацией в гене полимеразы гамма (POLG1, p.L304R), с разными клиническими проявлениями и неблагоприятным исходом у больных из двух разных семей.

The common cause of mitochondrial diseases is mutations in the POLG1 gene encoding the catalytic subunit of DNA-polymerase gamma that is responsible for the replication and repair of mitochondrial DNA. Diseases associated with POLG1 gene defects are characterized by obvious clinical polymorphism and may resemble some mitochondrial syndromes and other hereditary and nonhereditary diseases, which gives rise to diagnostic difficulties. Another characteristic feature is that phenotypic manifestations are of diversity in various patients having the same mutation in the POLG1 gene. The paper describes mitochondrial encephalomyopathy, caused by homozygous mutation in the polymerase gamma (POLG1, p.L304R), with different clinical manifestations and a poor outcome in patients from two different families.

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The authors declare that there are no conflicts of interest present.