Document Detail

A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
MedLine Citation:
PMID:  10090475     Owner:  NLM     Status:  MEDLINE    
We have identified a new mutation in the tRNA(Lys) gene of mtDNA, in a 49-year-old patient with mitochondrial encephalomyopathy. The mutation is a heteroplasmic G-->A transition at position 8328, which affects the anticodon stem loop at a conserved site. The mutation was neither found in 100 controls nor in the maternal relatives of the patient. The level of mutated mtDNA was 57% in muscle, 13% in fibroblasts, and 10% in lymphocytes. Histochemistry of muscle tissue revealed cytochrome c oxidase-deficient fibers with abnormal accumulation of mitochondria. Biochemistry of muscle mitochondria showed slight cytochrome c oxidase deficiency. The mean ratio of mutant mtDNA to normal mtDNA in cytochrome c oxidase-positive muscle fibers was 59%, whereas a mean ratio of 95% was found in cytochrome c oxidase-negative fibers. The difference between cytochrome c oxidase-positive and cytochrome c oxidase-negative fibers was highly significant (P < 0.001). The mutation was not found in muscle or lymphocytes of the mother and daughter of the proband. This is the first report of a de novo point mutation in the tRNA(Lys) gene in an individual expressing disease and the first report of lack of transmission of the mutation to the offspring of a patient expressing a mitochondrial encephalomyopathy caused by a point mutation in mtDNA.
M Houshmand; C Lindberg; A R Moslemi; A Oldfors; E Holme
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human mutation     Volume:  13     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1999  
Date Detail:
Created Date:  1999-07-13     Completed Date:  1999-07-13     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  203-9     Citation Subset:  IM    
Department of Clinical Chemistry, Göteborg University, Sahlgrenska University Hospital, Gothenburg, Sweden.
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MeSH Terms
Base Sequence
Blotting, Southern
DNA Mutational Analysis
DNA, Mitochondrial*
Electron Transport Complex IV / metabolism
Middle Aged
Mitochondria / enzymology
Mitochondrial Encephalomyopathies / genetics*
Models, Genetic
Molecular Sequence Data
Muscle Fibers, Skeletal / metabolism
Muscles / anatomy & histology,  ultrastructure
Point Mutation*
RNA, Transfer, Lys / genetics*
Sequence Homology, Nucleic Acid
Reg. No./Substance:
0/DNA, Mitochondrial; 0/RNA, Transfer, Lys; EC Transport Complex IV

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