Research LettersIncreased risk of stroke in patients with the A12308G polymorphism in mitochondria
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Cited by (52)
Emerging functions of mitochondria-encoded noncoding RNAs
2023, Trends in GeneticsMolecular basis of stroke
2019, Clinical Molecular Medicine: Principles and PracticeEvolution and disease converge in the mitochondrion
2010, Biochimica et Biophysica Acta - BioenergeticsCitation Excerpt :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].
Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family
2009, Molecular Genetics and Metabolism