Format

Send to:

Choose Destination
See comment in PubMed Commons below
Biochem Biophys Res Commun. 1997 Sep 18;238(2):326-8.

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

Author information

  • 1Department of Neurology, Columbia University College of Physicians & Surgeons, New York, New York 10032, USA.

Abstract

We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The mutation affects an evolutionarily conserved nucleotide and was heteroplasmic in muscle, leukocytes, and several autopsy tissues, including brain. The mutation was less abundant (<5%) in leukocytes from an asymptomatic sister and was not found in over 100 controls, thus satisfying accepted criteria for pathogenicity. Our report reinforces the concept of genetic heterogeneity in MELAS and confirms that MELAS can be due to mutations in polypeptide-coding mtDNA genes.

Copyright 1997 Academic Press.

PMID:
9299505
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk