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Lookup NU author(s): Professor Bobby McFarlandORCiD,
Dr Joanna Elson,
Professor Robert Taylor,
Emeritus Professor Doug Turnbull
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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.
Author(s): McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM
Publication type: Article
Publication status: Published
Journal: Trends in Genetics
ISSN (print): 0168-9525
ISSN (electronic): 1362-4555
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