Physiology and pathophysiology of mitochondrial DNA

Hongzhi Li; Danhui Liu; Jianxin Lu; Yidong Bai

doi:10.1007/978-94-007-2869-1_2

Physiology and pathophysiology of mitochondrial DNA

Hongzhi Li, Danhui Liu, Jianxin Lu, Yidong Bai

Cell Systems & Anatomy

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
Title of host publication	Advances in Mitochondrial Medicine
Pages	39-51
Number of pages	13
DOIs	https://doi.org/10.1007/978-94-007-2869-1_2
State	Published - Apr 24 2012

Publication series

Name	Advances in Experimental Medicine and Biology
Volume	942
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

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Access to Document

10.1007/978-94-007-2869-1_2