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KMID : 1044720120020010011
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Journal of Lifestyle Medicine
2012 Volume.2 No. 1 p.11 ~ p.14
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Mitochondrial DNA and Human Diseases
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Park Chan-Bae
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Abstract
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The existence of mitochondrial DNA (mtDNA) was recognized more than 50 years ago. Ever since various mtDNA mutations have been identified to cause human diseases, including MELAS, MERRF, and Kearns-Sayre syndrome. To make therapeutic strategies against mtDNA diseases, it is essential to understand the genetics of mtDNA. The unique principles of mtDNA genetics such as heteroplasmy, bottle-neck effect, mitotic segregation, and purifying selection, are resulting from its high copy number in cells and maternal inheritance.
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KEYWORD
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Mitochondria, mtDNA, Diseases, Heteroplasmy
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