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mtDNA diseases

Thursday 25 September 2003

More than 75 human diseases have been associated with mitochondrial dysfunction, and many of these are directly caused by overtly pathogenic mutations in the mitochondrial genome (mtDNA).

In addition, there have been a number of reports that posit a different, subtler role for mtDNA substitutions in the disease process.


- mitochondrial DNA mutations at nucleotide (nt) 3460, 11778, or 14484 (classic LHON mutations) in Leber hereditary optic neuropathy (LHON)
- MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) syndrome
- diabetes
- deafness
- chronic progressive external ophthalmoplegic symptoms
- stroke-like episodes
- accumulation of mitochondrial DNA mutations in human immunodeficiency virus-infected patients treated with nucleoside-analogue reverse-transcriptase inhibitors (12587093)

See also

- mtDNA mutations
- mtDNA rearrangements (mtDNA deletions)




- Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2005 May;6(5):389-402. PMID: 15861210

- Samuels DC. Mitochondrial DNA repeats constrain the life span of mammals. Trends Genet. 2004 May;20(5):226-9. PMID: 15109774

- Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. PMID: 12928485

- Lightowlers RN, Jacobs HT, Kajander OA. Mitochondrial DNA - all things bad? Trends Genet. 1999 Mar;15(3):91-3. PMID: 10203801