A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1990-12

AUTHORS

Y Goto, I Nonaka, S Horai

ABSTRACT

Mitochondrial encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS); (2) myoclonus epilepsy associated with ragged-red fibres (MERRF); and (3) chronic progressive external ophthalmoplegia (CPEO) including Kearns-Sayre syndrome. Large deletions of human mitochondrial DNA and a transition mutation at the mitochondrial transfer RNALys gene give rise to CPEO including Kearns-Sayre syndrome and MERRF, respectively. Here we report an A-to-G transition mutation at nucleotide pair 3,243 in the dihydrouridine loop of mitochondrial tRNA(Leu)(UUR) that is specific to patients with MELAS. Because this mutation creates an ApaI restriction site, we could perform a simple molecular diagnostic test for the disease. The mutation was present in 26 out of 31 independent MELAS patients and 1 out of 29 CPEO patients, but absent in the 5 MERRF and 50 controls tested. Southern blot analysis confirmed that the mutant DNA always coexists with the wild-type DNA (heteroplasmy). More... »

PAGES

651-653

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/348651a0

DOI

http://dx.doi.org/10.1038/348651a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027941299

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2102678


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