Mitochondrial genome and human mitochondrial diseases

I. O. Mazunin, N. V. Volodko, E. B. Starikovskaya, R. I. Sukernik

Research output: Contribution to journalReview articlepeer-review

10 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)665-681
Number of pages17
JournalMolecular Biology
Issue number5
Publication statusPublished - 2010
Externally publishedYes


  • heteroplasmy
  • mitochondrial diseases
  • mitochondrial genome
  • mitochondrial respiratory chain defect therapy
  • mtDNA mutations
  • oxidative phosphorylation


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