Document Detail

Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.
MedLine Citation:
PMID:  8492919     Owner:  NLM     Status:  MEDLINE    
We describe a family with three cases of "clinically incomplete mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome" in which heteroplasmic tRNA(Leu(UUR)) mutation at nucleotide 3243 of the mitochondrial DNA was present in three generations. The amount of mutant genome varied among tissues: it was 60% in the kidney, 72% in the cardiac muscle, and 91% in the liver of the female proband's affected brother and 63% in the kidney, 71% in the cardiac muscle, and 71% in the liver of the female proband's perinatally deceased son. The tRNA(Leu(UUR)) mutation was also carried by the siblings of the proband's affected mother. None of them had any clinical signs of MELAS syndrome. This syndrome has the new feature of being associated with adult-onset diabetes mellitus, neurosensory hearing loss, and short stature.
A M Remes; K Majamaa; R Herva; I E Hassinen
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  43     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1993 May 
Date Detail:
Created Date:  1993-06-11     Completed Date:  1993-06-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1015-20     Citation Subset:  AIM; IM    
Department of Medical Biochemistry, University of Oulu, Finland.
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MeSH Terms
Base Sequence
DNA, Mitochondrial / genetics*,  isolation & purification
Diabetes Mellitus, Type 2 / genetics*
Hearing Loss, Sensorineural / genetics*
Kidney / metabolism
MELAS Syndrome / genetics*
Mitochondria / metabolism
Mitochondria, Heart / metabolism
Mitochondria, Muscle / metabolism
Point Mutation*
Polymerase Chain Reaction
RNA, Transfer, Leu / genetics*
Reg. No./Substance:
0/DNA, Mitochondrial; 0/RNA, Transfer, Leu

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