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An additional mitochondrial tRNA Ile point mutation (A‐to‐G at nucleotide 4295) causing hypertrophic cardiomyopathy
Author(s) -
Merante F.,
Myint T.,
Tein I.,
Benson L.,
Robinson B.H.
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)8:3<216::aid-humu4>3.0.co;2-7
Subject(s) - heteroplasmy , biology , point mutation , mitochondrial dna , hypertrophic cardiomyopathy , mutation , genetics , transition (genetics) , mitochondrial disease , gene , biochemistry
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. © 1996 Wiley‐Liss, Inc.