Journal
TRENDS IN GENETICS
Volume 20, Issue 12, Pages 591-596Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2004.09.014
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Funding
- Medical Research Council [G108/539] Funding Source: researchfish
- Medical Research Council [G108/539] Funding Source: Medline
- MRC [G108/539] Funding Source: UKRI
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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.
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