Toggle Main Menu Toggle Search

ePrints

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

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

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

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

URL: http://dx.doi.org/10.1002/humu.21113

DOI: 10.1002/humu.21113


Altmetrics

Altmetrics provided by Altmetric


Actions

    Link to this publication


Share