Forum Topic: Mitochondrial Disease Association Analysis

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Mitochondrial Disease Association Analysis

The mutation rate of the mitochondrial genome is 10 to 17 times higher than that of nuclear DNA. Although the mtDNA repair system does exist, it is not enough to counteract oxidative damage of the mitochondrial genome and lack of protective histones. Most of the mitochondrial DNA changes are neutral polymorphisms. The first batch of pathogenic mitochondrial DNA mutations was discovered in 1988. Since then, more than 250 pathogenic mtDNA mutations (point mutations and rearrangements) have been characterized, but the prevalence of mtDNA mutations is still underestimated. [url][/url]

This topic was started by Joe Cohen.

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