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Titolo:
MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY DUE TO A NOVEL T-TO-C TRANSITION AT NUCLEOTIDE-9997 IN THE MITOCHONDRIAL TRNA(GLYCINE) GENE
Autore:
MERANTE F; TEIN I; BENSON L; ROBINSON BH;
Indirizzi:
HOSP SICK CHILDREN,RES INST,555 UNIV AVE TORONTO M5G 1X8 ON CANADA HOSP SICK CHILDREN,RES INST TORONTO M5G 1X8 ON CANADA UNIV TORONTO,DEPT BIOCHEM TORONTO ON CANADA UNIV TORONTO,DEPT CLIN BIOCHEM TORONTO ON CANADA UNIV TORONTO,DEPT PEDIAT TORONTO ON CANADA
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 55, anno: 1994,
pagine: 437 - 446
SICI:
0002-9297(1994)55:3<437:MIHCDT>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
RAGGED-RED FIBERS; TRANSFER-RNA GENES; HEAVY-CHAIN GENE; LACTIC-ACIDOSIS; TRANSFER RNALEU(UUR); MYOCLONIC EPILEPSY; EPISODES MELAS; NEUROMUSCULAR DISEASES; CYTOCHROME-OXIDASE; SKELETAL-MUSCLE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
51
Recensione:
Indirizzi per estratti:
Citazione:
F. Merante et al., "MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY DUE TO A NOVEL T-TO-C TRANSITION AT NUCLEOTIDE-9997 IN THE MITOCHONDRIAL TRNA(GLYCINE) GENE", American journal of human genetics, 55(3), 1994, pp. 437-446

Abstract

We report a unique heteroplasmic T-to-C transition at nucleotide 9997in the mitochondrial tRNA(glycine) gene in a multiplex family who manifested nonobstructive cardiomyopathy. The degree of mtDNA heteroplasmy generally correlated with the severity of the symptoms. This T-to-C transition disrupts hydrogen bonding in the region adjacent to the acceptor stem of the tRNA molecule. The thymine residue at position 9997 is highly conserved in mammals, as well as in various vertebrates and invertebrates. A PCR diagnostic test for the presence of the 9997 T-to-C transition revealed that the base change was always present in highproportion in affected family members, not present in unaffected family members, and never present in control subjects from various ethnic groups (25 groups sampled, 42 individuals), thus ruling out the possibility that this change represents a polymorphic variant in the generalpopulation. The degree of heteroplasmy in lymphoblast cultures also correlated with the level of enzyme activity present for cytochrome c oxidase (complex IV) and succinate cytochrome c oxidoreductase (complexes II and III). The absence of previously reported mtDNA mutations associated with hypertrophic cardiomyopathy was verified by both PCR diagnostic procedures and sequence analysis. All mitochondrial tRNA genes,as well as genes encoding ATPase subunits 6 and 8, were sequenced andfound not to possess base changes consistent with the clinical profile. More detailed biochemical and molecular biological investigations are discussed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/07/20 alle ore 12:07:25