title: Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies.
abstract: The aim of this study was to identify the genetic defect in two patients having cardiac dysfunction accompanied by neurological symptoms, and in one case MRI evidence of cortical and cerebellar atrophy with hyperintensities in the basal ganglia. Muscle biopsies from each patient revealed single and combined mitochondrial respiratory chain deficiency. The complete mtDNA sequencing of both patients revealed two transitions in the mitochondrial tRNA(Val) gene (MT-TV) (m.1628C>T in Patient 1, and m.1644G>A in Patient 2). The functional and molecular analyses reported here suggest that the MT-TV gene should be routinely considered in the diagnosis of mitochondrial cardiomyopathies.
authors: Departamento de Bioquímica, Instituto de Investigaciones Biomédicas Alberto Sols CSIC-UAM, Facultad de Medicina, Universidad Autónoma de Madrid, Spain.
authors: Juan J
authors: JJ
authors: Arredondo
authors: M Esther
authors: ME
authors: Gallardo
authors: Pablo
authors: P
authors: García-Pavía
authors: Verónica
authors: V
authors: Domingo
authors: Begoña
authors: B
authors: Bretón
authors: M Teresa
authors: MT
authors: García-Silva
authors: M Jesús
authors: MJ
authors: Sedano
authors: Miguel A
authors: MA
authors: Martín
authors: Joaquín
authors: J
authors: Arenas
authors: Margarita
authors: M
authors: Cervera
authors: Rafael
authors: R
authors: Garesse
authors: Belén
authors: B
authors: Bornstein
mesh_terms: D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012366:RNA, Transfer, Val / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D000077278:RNA, Mitochondrial; D012366:RNA, Transfer, Val; D012313:RNA