Journal Article

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

Howard T. Jacobs and Ian J. Holt

in Human Molecular Genetics

Volume 9, issue 4, pages 463-465
Published in print March 2000 | ISSN: 0964-6906
Published online March 2000 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/9.4.463
The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t

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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.

Journal Article.  2591 words.  Illustrated.

Subjects: Genetics and Genomics

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