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A new mtDNA mutation in the tRNA Leu(UUR) gene associated with maternally inherited cardiomyopathy
Author(s) -
Silvestri G.,
Santorelli F. M.,
Shanske S.,
Whitley C. B.,
Schimmenti L. A.,
Smith S. A.,
DiMauro S.
Publication year - 1994
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/humu.1380030107
Subject(s) - heteroplasmy , proband , biology , genetics , mitochondrial dna , mutation , cardiomyopathy , mitochondrial myopathy , myopathy , sudden death , mitochondrial disease , gene , heart failure , medicine
We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in life as sudden cardiac death or as mitochondrial myopathy with cardiomyopathy. The mutation was homoplasmic in all tissues (including blood) from the proband and her brother, but heteroplasmic in blood from five oligosymptomatic or asymptomatic maternal relatives. This mutation disrupts a conserved base pair in the aminoacyl stem of the tRNA Leu(UUR) . None of 70 controls carried the mutation. Our data indicate that this mutation is the genetic cause of the disorder in this family, and confirm that the tRNA Leu(UUR) is a “hot spot” for mutations in mtDNA. © 1994 Wiley‐Liss, Inc.