Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T)

Biochemical and Biophysical Research Communications
A ShaagO N Elpeleg

Abstract

We report a new mutation, an A-->T transition at nt 3243 in the mitochondrial tRNA(leu)(UUR) gene, in a 9-year-old girl who presented with muscle weakness of 3 years duration complicated by rapidly progressive encephalopathy. In muscle, the activity of the mitochondrial respiratory chain complexes I, III, and IV was markedly reduced. The mutation, involving a highly conserved base pair in the dihydrouridine loop, was heteroplasmic in muscle (81.4%), skin (69.3%), and blood (13.8%) and was not present in blood of 50 healthy individuals. The mitochondrial 3243 base is a "hot spot" for mutations; an A-->G transition at this position is found in a high proportion in most MELAS patients. Since the A-->T transition creates a new recognition site for the restriction enzyme TspRI, both ApaI and TspRI should be used to exclude a mutation at nt 3243.

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Citations

Jan 15, 2014·EMBO Molecular Medicine·Hue Tran Hornig-DoZofia M Chrzanowska-Lightowlers
May 18, 2010·Neuromuscular Disorders : NMD·Charlotte L AlstonRobert W Taylor
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