Physiology and pathophysiology of mitochondrial DNA

Hongzhi Li, Danhui Liu, Jianxin Lu, Yidong Bai

Research output: Chapter in Book/Report/Conference proceedingChapter

27 Scopus citations

Abstract

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
Pages39-51
Number of pages13
DOIs
StatePublished - Apr 24 2012

Publication series

NameAdvances in Experimental Medicine and Biology
Volume942
ISSN (Print)0065-2598

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Keywords

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

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Li, H., Liu, D., Lu, J., & Bai, Y. (2012). Physiology and pathophysiology of mitochondrial DNA. In Advances in Mitochondrial Medicine (pp. 39-51). (Advances in Experimental Medicine and Biology; Vol. 942). https://doi.org/10.1007/978-94-007-2869-1_2