Document Detail


An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
MedLine Citation:
PMID:  11781695     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a novel point mutation in the gene for the mitochondrially encoded ND6 subunit of the NADH:ubiquinone oxidoreductase (complex I of the respiratory chain) in a patient with MELAS syndrome. The mutation causes a change from alanine to valine in the most conserved region of the ND6 subunit. The patient was heteroplasmic for the mutation in both muscle and blood, but the mutation was not detected in the patient's mother. A marked reduction of complex I activity was found in the patient's muscular tissue. This is the first report of a mutation in the ND6 subunit causing MELAS. Our data confirm the genetic heterogeneity in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome, and confirms that MELAS can be caused by mutation in polypeptide-coding mtDNA genes.
Authors:
K Ravn; F Wibrand; F J Hansen; N Horn; T Rosenberg; M Schwartz
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  9     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2001 Oct 
Date Detail:
Created Date:  2002-01-08     Completed Date:  2002-02-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  805-9     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Child, Preschool
DNA Mutational Analysis
DNA, Mitochondrial / blood,  genetics*
Female
Humans
MELAS Syndrome / blood,  enzymology*,  genetics*
Mitochondria, Muscle / enzymology
Mutation / genetics*
NADH Dehydrogenase / chemistry*,  genetics*,  metabolism
Protein Subunits
Restriction Mapping
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial; 0/Protein Subunits; EC 1.6.99.3/NADH Dehydrogenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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