AN ADDITIONAL MITOCHONDRIAL TRNA(ILE) POINT MUTATION (A-TO-G NUCLEOTIDE-4295) CAUSING HYPERTROPHIC CARDIOMYOPATHY

A third point mutation in the mitochondriaI tRNA(Ile) gene associated with hypertrophic cardiomyopathy and respiratory chain dysfunction in heart is reported. An A-to-G transition at nucleotide position 4295 wa s shown. to be highly evolutionarily conserved, never present in contr ol individuals, and to segregate with the disease. A PCR-based diagnos tic test and endomyocardial biopsies were used to detect both the bioc hemical deficiency and the level of heteroplasmy in heart. The implica tions of this new mitochondrial DNA point mutation are discussed. (C) 1996 Wiley-Liss, Inc.