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

TitleThe np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't.
Publication TypeJournal Article
Year of Publication2000
AuthorsJacobs, HT, Holt, IJ
JournalHum Mol Genet
Volume9
Issue4
Pagination463-5
Date Published2000 Mar 01
ISSN0964-6906
KeywordsAcylation, DNA, Mitochondrial, Humans, MELAS Syndrome, Point Mutation, RNA, Transfer, Leu
Abstract

The np 3243 MELAS mtDNA mutation in tRNA(leu(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.

DOI10.1093/hmg/9.4.463
Alternate JournalHum. Mol. Genet.
Citation Key10.1093/hmg/9.4.463
PubMed ID10699169
Grant ListMC_U105663140 / / Medical Research Council / United Kingdom