@inbook{17f543936c124371a01cc65d0912b252,
title = "Physiology and pathophysiology of mitochondrial DNA",
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.",
keywords = "Common deletion, D-loop region, Heteroplasmy, Mitochondrial DNA mutation, Mitochondrial haplogroup",
author = "Hongzhi Li and Danhui Liu and Jianxin Lu and Yidong Bai",
note = "Funding Information: The work in the laboratory of the authors has been supported by NIH (R01 AG025223) and Chinese National Science Foundation (31070765/C050605, and 810004611/H1409).",
year = "2012",
doi = "10.1007/978-94-007-2869-1_2",
language = "English (US)",
isbn = "9789400728684",
series = "Advances in Experimental Medicine and Biology",
pages = "39--51",
booktitle = "Advances in Mitochondrial Medicine",
}