Tissue-specific features of mitochondrial DNA polymorphisms
Abstract
Mitochondrial DNA (mtDNA) has a polyploid structure, i.e. every cell contains thousands of mtDNA copies. However, in view of heredity or somatic mutations, mtDNA copies vary from one another (heteroplasmy). Moreover, heteroplasmy may occur at both the intracellular, intercellular, or even intertissue level. The tissue distribution of mtDNA variants is heterogeneous. The paper describes the results of mitochondrial genome primary sequencing carried out because of suspected mitochondrial encephalomyopathy. There is a need for further investigation of the pathogenetic value of mtDNA variants. Due to the fact that blood and buccal epithelial samples from each patient vary in the found mtDNA variants, it is very important to send a few samples from different tissues for sequencing.
About the Authors
N. A. Litvinova
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
A. S. Voronkova
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
E. A. Nikolaeva
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
V. S. Sukhorukov
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Litvinova N.A., Voronkova A.S., Nikolaeva E.A., Sukhorukov V.S. Tissue-specific features of mitochondrial DNA polymorphisms. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(5):76-78. (In Russ.)
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