Mitochondrial genome and human mitochondrial diseases

Today there are described more than 400 point mutations and more than hundred of structural rearrangements of mitochondrial DNA associated with characteristic neuromuscular and other mitochondrial syndromes, from lethal in the neonatal period of life to the disease with late onset. The defects of ox...

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Bibliographic Details
Published in:Molecular biology (New York) 2010-10, Vol.44 (5), p.665-681
Main Authors: Mazunin, I. O., Volodko, N. V., Starikovskaya, E. B., Sukernik, R. I.
Format: Article
Language:English
Subjects:
Biochemistry
Biomedical and Life Sciences
Genomics
Human Genetics
Life Sciences
Mitochondrial DNA
Molecular biology
Mutation
Oxidation
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Summary:Today there are described more than 400 point mutations and more than hundred of structural rearrangements of mitochondrial DNA associated with characteristic neuromuscular and other mitochondrial syndromes, from lethal in the neonatal period of life to the disease with late onset. The defects of oxidative phosphorylation are the main reasons of mitochondrial disease development. Phenotypic diversity and phenomenon of heteroplasmy are the hallmark of mitochondrial human diseases. It is necessary to assess the amount of mutant mtDNA accurately, since the level of heteroplasmy largely determines the phenotypic manifestation. In spite of tremendous progress in mitochondrial biology since the cause-and-effect relations between mtDNA mutation and the human diseases was established over 20 years ago, there is still no cure for mitochondrial diseases.
ISSN:0026-8933
1608-3245
DOI:10.1134/S0026893310050018