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. 2006 Apr 5;10(3):431–441. doi: 10.1111/j.1750-3639.2000.tb00275.x

Mutations in mtDNA: Are We Scraping the Bottom of the Barrel?

Salvatore DiMauro 1,✉, Antoni L Andreu 2
PMCID: PMC8098507  PMID: 10885662

Abstract

The small, maternally inherited mtDNA has turned out to be a Pandora's box of pathogenic mutations: 12 years into the era of “mitochondrial medicine,” about 100 pathogenic point mutations and innumerable rearrangements have been associated with a bewildering variety of multisystemic as well as tissue‐specific human diseases. After reviewing the principles of mitochondrial genetics, we compare and contrast the clinical and pathological features of disorders due to mutations in genes affecting mitochondrial protein synthesis with those of mutations in protein‐coding genes.

In contrast to the striking progress in our understanding of etiology, pathogenesis is only partially explained by the rules of mitochondrial genetics and remains largely terra incognita. We review recent progress in prenatal diagnosis and epidemiology. Therapy is still woefully inadequate, but a number of promising approaches are being developed.

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