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Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?

Lookup NU author(s): Dr Joanna Elson, Dr Helen Swalwell, Professor Bobby McFarlandORCiD, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations to cause human disease. The majority of mt-tRNA mutations are heteroplasmic and while some exhibit maternal transmission within families, many others are only seen as sporadic mutations. Using the available clinical, biochemical and genetic data from published pathogenic mt-tRNA mutations, we have explored several different factors thought to influence the transmission of mt-tRNA mutations. Our data show that the most important factor in predicting whether a mutation is transmitted to offspring is whether the mt-tRNA mutation is selected against in a rapidly replicating tissue such as blood. This suggests that those mt-tRNA mutations which exert a major phenotype in dividing cells are unlikely to be inherited. This is entirely compatible with recent observations on the mitochondrial genetic bottleneck in early development and has important implications for families with mt-tRNA disease.

Publication metadata

Author(s): Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Human Mutation

Year: 2009

Volume: 30

Issue: 11

Pages: E984-E992

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: Wiley-Blackwell


DOI: 10.1002/humu.21113


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Funder referenceFunder name
UK National Commissioning Group for Rare Mitochondrial Disorders of Children and Adults
Research Council UK RCUK
G0800674Medical Research Council
GR074454Wellcome Trust
G0700718Medical Research Council