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Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough

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

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Abstract

Some mutations in mitochondrial tRNA (mt-tRNA) genes cause devastating disease, whereas others have no clinical consequences. We understand little of the factors determining the pathogenicity of specific mt-tRNA mutations, making prediction of clinical outcome extremely difficult. Using extensive sequence databases, we compared the characteristics of neutral variations with those of pathogenic mutations. We recommend that the location of the proposed mutation within the secondary structure of the mt-tRNA molecule and the disruption it causes to Watson-Crick base pairing should be considered when assessing the pathological significance of a novel mt-tRNA mutation.


Publication metadata

Author(s): McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Trends in Genetics

Year: 2004

Volume: 20

Issue: 12

Pages: 591-596

ISSN (print): 0168-9525

ISSN (electronic): 1362-4555

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.tig.2004.09.014

DOI: 10.1016/j.tig.2004.09.014


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