Pathogenic mitochondrial DNA point mutations
Abstract
Cell energy metabolic disorders, the basis for which is mitochondrial insufficiency caused by mitochondrial DNA (mtDNA) point mutations, give rise to a broad spectrum of clinical manifestations so the purpose of this review is to analyze the recent publications on the relationship of mtDNA point mutations to mitochondrial diseases, which unveil the importance of development of molecular diagnosis. The presence of A3243G, T3271C, T3291C, C3256T, A8344G, G8356A, A3260G, СЗЗОЗТ, and A4300Gmutations in mtDNA may suggest that there are multiorgan dysfunctions and multisystem disorders, the clinical signs and symptoms of which can vary with time, which emphasizes the importance of comprehensive genetic studies if the mitochondrial disease is assumed to be clinical.
About the Authors
N. A. Litvinova
Research Clinical Institute of Pediatrics, Moscow
Russian Federation
Russian Federation
A. S. Voronkova
Research Clinical Institute of Pediatrics, Moscow
Russian Federation
Russian Federation
V. S. Suchorukov
Research Clinical Institute of Pediatrics, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Litvinova N.A., Voronkova A.S., Suchorukov V.S. Pathogenic mitochondrial DNA point mutations. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2014;59(2):29-34. (In Russ.)
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