A New MtDNA Mutation Associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)

Overview

Journal Biochim Biophys Acta

Specialties Biochemistry
Biophysics

Date 1991 Oct 21

PMID 1932147

Citations 61

Authors

Y Goto

I Nonaka

S Horai

Affiliations

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Abstract

In 3 of 40 MELAS patients, a new common mutation, a T-to-C transition at nucleotide position 3271 in the mitochondrial tRNA(Leu(UUR] gene was recognized and was very near to the most common mutation site at 3243. With a simple detection method using polymerase chain reaction with a mismatch primer, none of 46 patients with other mitochondrial diseases and 50 controls had this mutation.

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Post-transcriptional methylation of mitochondrial-tRNA differentially contributes to mitochondrial pathology.

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Case report: MELAS and T3271C mitochondrial mutation in an adult woman.

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