Journal
MITOCHONDRION
Volume 12, Issue 5, Pages 533-538Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2012.06.009
Keywords
Mitochondrial DNA disease; mt-tRNA variation; Evolutionary conservation; Pathogenicity; Scoring system; Intra-species variation
Categories
Funding
- Medical Research Council (UK)
- Wellcome Trust [074454/Z/04/Z]
- MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK) [G0800674]
- HEFCE/DoH Clinical Senior Lecturer Award
- NHS Specialist Commissioners which fund The Rare Mitochondrial Disease Service for Adults and Children
- Research Council UK RCUK Academic fellowship
- MRC [G108/539, G0800674] Funding Source: UKRI
- Medical Research Council [G108/539, G0800674] Funding Source: researchfish
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Assigning pathogenicity to mt-tRNA variants requires multiple strands of evidence. Evolutionary conservation is often considered mandatory, but lack of a standard panel of organisms to assess conservation complicates comparison between reports and undermines the value of conservation-based evidence. We demonstrate that intra-species MTT sequence variation is sufficiently low for sequence data from a single organism to adequately represent a species. On this basis, we propose a standardised panel of organisms for conservation assessment and describe integration of this conservation panel into a pathogenicity scoring system designed to assess mt-tRNA variation associated with mitochondrial disease. (C) 2012 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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