Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID 3256C-T MUTATION IN A JAPANESE FAMILY WITH NONINSULIN-DEPENDENT DIABETES-MELLITUS
Autore:
HIRAI M; SUZUKI S; ONODA M; HINOKIO Y; HIRAI A; OHTOMO M; CHIBA M; KASUGA S; HIRAI S; SATOH Y; AKAI H; MIYABAYASHI S; TOYOTA T;
Indirizzi:
TOHOKU UNIV,SCH MED,DEPT INTERNAL MED 3,AOBA KU,1-1 SEIRYO-MACHI SENDAI MIYAGI 980 JAPAN TOHOKU UNIV,SCH MED,DEPT INTERNAL MED 3,AOBA KU SENDAI MIYAGI 980 JAPAN TOHOKU UNIV,SCH MED,DEPT PEDIAT,AOBA KU SENDAI MIYAGI 980 JAPAN
Titolo Testata:
The Journal of clinical endocrinology and metabolism
fascicolo: 3, volume: 83, anno: 1998,
pagine: 992 - 994
SICI:
0021-972X(1998)83:3<992:MD3MIA>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSFER RNA(LEU(UUR)) GENE; LACTIC-ACIDOSIS; EPISODES MELAS; DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
M. Hirai et al., "MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID 3256C-T MUTATION IN A JAPANESE FAMILY WITH NONINSULIN-DEPENDENT DIABETES-MELLITUS", The Journal of clinical endocrinology and metabolism, 83(3), 1998, pp. 992-994

Abstract

Accumulating reports indicate a relationship between mitochondrial DNA mutation and impaired glucose-induced insulin secretion leading to asubtype of noninsulin-dependent diabetes mellitus. DNA from a 45-yr-old Japanese woman with noninsulin-dependent diabetes mellitus and muscle atrophy was isolated and studied for mitochondrial DNA mutations. We identified a mitochondrial DNA C-T heteroplasmic mutation at nucleotide position 3256, The mutation was located in the transfer ribonucleic acid(Leu) in a region conserved in evolution. Eight other members ofher family were examined for the mutation. Six of them had the same mutation together with noninsulin-dependent diabetes mellitus. and one teenage boy had the mutation and impaired glucose tolerance. The otherfamily member who did not have this mutation had normal glucose tolerance. The enzyme activity of the mitochondrial oxidative phosphorylation pathway in the muscle of the proband was measured. The enzyme activity was decreased in the proband, especially in complex I. This mutation might be responsible for the abnormal glucose metabolism.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 08:01:27