Mitochondrial Encephalomyopathy Associated with a Novel Mutation in the Mitochondrial tRNAleu(UUR)Gene (A3243T)
We report a new mutation, an A→T transition at nt 3243 in the mitochondrial tRNAleu(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...
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Published in | Biochemical and biophysical research communications Vol. 233; no. 3; pp. 637 - 639 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Elsevier Inc
28.04.1997
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Online Access | Get full text |
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Summary: | We report a new mutation, an A→T transition at nt 3243 in the mitochondrial tRNAleu(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 transtion 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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ISSN: | 0006-291X 1090-2104 |
DOI: | 10.1006/bbrc.1997.6496 |