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Human Molecular Genetics, 2000, Vol. 9, No. 4 463-465
© 2000 Oxford University Press

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t

Howard T. Jacobs1,2,+ and Ian J. Holt3

1Institute of Medical Technology and Tampere University Hospital, University of Tampere, 33101 Tampere, Finland, 2Institute of Biomedical and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK and 3MRC Dunn Human Nutrition Unit, Hills Road, Cambridge CB2 2XY, UK

The np 3243 MELAS mtDNA mutation in tRNAleu(UUR) has been variously proposed as a loss-of-function or as a gain-of-function mutation, based on apparently contradictory studies in cultured cell lines. A new report describing the molecular effects of the mutation in vivo now mirrors this variability. This should prompt a more systematic re-investigation of cells carrying the mutation, in order to separate primary from secondary and pathogenic from compensatory effects, all of which may contribute to disease phenotype. Nuclear genetic and developmental background, mitochondrial haplotype, and epigenetic effects may all influence the pathological outcome. Defects in both base-modification and aminoacylation of the mutant tRNA could play critical roles.

+ To whom correspondence should be addressed. Tel/Fax: +358 3215 7731; Email: howy.jacobs@uta.fi


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