Elsevier

The Lancet

Volume 356, Issue 9247, 16 December 2000, Pages 2068-2069
The Lancet

Research Letters
Increased risk of stroke in patients with the A12308G polymorphism in mitochondria

https://doi.org/10.1016/S0140-6736(00)03408-5Get rights and content

Summary

Factors which increase the risk of stroke in patients with the A3243G (mitochondrial encephalomyopathy, lactic acidosis, and stroke [MELAS]) mutation in human mitochondrial DNA are unclear. Previous work on lung-cancer cells with an A3243G mutation showed that a mutation in the mitochondrial transfer gene for leucine tRNALeu(CUN) was able to ameliorate the A3243G-induced biochemical phenotype. We analysed the tRNALeu(CUN) gene in 48 unrelated A3243G cases. We showed that a polymorphism, A12308G, in tRNALeu(CUN) increases the risk of developing stroke in patients with the A3243G mutation (relative risk=2·17). This may have implications for genetic counselling.

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    Similarly to disease-causing mutations, multiple studies support the functionality of mtDNA genetic variants. Firstly, mtDNA genetic backgrounds (haplogroups) have been repeatedly associated with altered susceptibility to various complex phenotypes including Parkinson's disease [51–56], type 2 diabetes and its complications [57–60], endurance athletics [61–63], various cardiovascular disorders [64–67], age-related macular degeneration [68–70], altered plasma lipid and cholesterol levels [71–73], schizophrenia [74,75], various types of cancer [76–78], human sperm motility [79–81], and successful aging [82–86]. It is worth noting that the high population divergence of mtDNA [87], and its close interplay with nDNA-encoded and environmental factors have resulted in the questioning of some of these associations [88–90].

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