An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy.
A third point mutation in the mitochondrial tRNA(Ile) gene associated with hypertrophic cardiomyopathy and respiratory chain dysfunction in heart is reported. An A-to-G transition at nucleotide position 4295 was shown to be highly evolutionarily conserved, never present in control individuals, and to segregate with the disease. A PCR-based diagnostic test and endomyocardial biopsies were used to detect both the biochemical deficiency and the level of heteroplasmy in heart. The implications of this new mitochondrial DNA point mutation are discussed.
Merante
F
F
Department of Biochemistry, University of Toronto, Ontario, Canada.
Myint
T
T
Tein
I
I
Benson
L
L
Robinson
B H
BH
D000225:Adenine; D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D002312:Cardiomyopathy, Hypertrophic / Q000201:enzymology / Q000235:genetics*; D017124:Conserved Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism; D005260:Female; D006147:Guanine; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009206:Myocardium / Q000201:enzymology; D009251:NADPH-Ferrihemoprotein Reductase / Q000235:genetics / Q000378:metabolism; D009690:Nucleic Acid Conformation; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012355:RNA, Transfer, Ile / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D013384:Succinate Cytochrome c Oxidoreductase / Q000235:genetics / Q000378:metabolism
D004272:DNA, Mitochondrial; D012355:RNA, Transfer, Ile; D006147:Guanine; D013384:Succinate Cytochrome c Oxidoreductase; D009251:NADPH-Ferrihemoprotein Reductase; D003576:Electron Transport Complex IV; D000225:Adenine