Physiology and pathophysiology of mitochondrial DNA

Hongzhi Li, Danhui Liu, Jianxin Lu, Yidong Bai

Research output: Chapter in Book/Report/Conference proceedingChapter

40 Scopus citations


Mitochondria are the only organelles in animal cells which possess their own genomes. Mitochondrial DNA (mtDNA) alterations have been associated with various human conditions. Yet, their role in pathogenesis remains largely unclear. This review focuses on several major features of mtDNA: (1) mtDNA haplogroup, (2) mtDNA common deletion, (3) mtDNA mutations in the control region or D-loop, (4) mtDNA copy number alterations, (5) mtDNA mutations in translational machinery, (6) mtDNA mutations in protein coding genes (7) mtDNA heteroplasmy. We will also discuss their implications in various human diseases.

Original languageEnglish (US)
Title of host publicationAdvances in Mitochondrial Medicine
Number of pages13
StatePublished - 2012

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598


  • Common deletion
  • D-loop region
  • Heteroplasmy
  • Mitochondrial DNA mutation
  • Mitochondrial haplogroup

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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