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Titolo:
ASSESSMENT OF MITOCHONDRIAL GENE IN PROLIFERATIVE VITREORETINAL TISSUES FROM PATIENTS WITH FAMILIAL DIABETES-MELLITUS
Autore:
ISASHIKI Y; OHBA N; HOKITA N; SAKAMOTO Y; UEMURA A; NAKAGAWA M; OSAME M; IZUMO S;
Indirizzi:
KAGOSHIMA UNIV,FAC MED,DEPT OPHTHALMOL,8-35-1 SAKURAGAOKA KAGOSHIMA 890 JAPAN KAGOSHIMA UNIV,FAC MED,CTR CHRON VIRAL DIS,DIV MOLEC PATHOL & GENET EPIDEMIOL KAGOSHIMA 890 JAPAN KAGOSHIMA UNIV,FAC MED,DEPT MED KAGOSHIMA 890 JAPAN
Titolo Testata:
Japanese Journal of Ophthalmology
fascicolo: 1, volume: 40, anno: 1996,
pagine: 66 - 70
SICI:
0021-5155(1996)40:1<66:AOMGIP>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
LACTIC-ACIDOSIS; POINT MUTATION; EPISODES MELAS; ENCEPHALOPATHY; MYOPATHY; DNA;
Keywords:
FAMILIAL DIABETES MELLITUS; INTRAOCULAR MTDNA; MTDNA 3243 MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
Y. Isashiki et al., "ASSESSMENT OF MITOCHONDRIAL GENE IN PROLIFERATIVE VITREORETINAL TISSUES FROM PATIENTS WITH FAMILIAL DIABETES-MELLITUS", Japanese Journal of Ophthalmology, 40(1), 1996, pp. 66-70

Abstract

Fibrovascular tissues obtained at therapeutic vitrectomy from 22 patients with proliferative diabetic retinopathy were studied for a mutation of tRNA(LEU(UUR)) at nucleotide position (np) 3243 of mitochondrialDNA (mtDNA). We found a mutation of mtDNA in the vitreous sample of one patient, a 44-year-old woman who had maternally inherited, familial, non-insulin-dependent diabetes mellitus of 25-year duration with recurrent vitreous hemorrhages due to proliferative retinopathy. Heteroduplex analysis also detected the mutant-type mtDNA in the vitreous sample of this patient. The abnormality was, however, not observed in the peripheral blood sample from either this patient or her family memberswith diabetes mellitus. The other 21 patients were negative for the mutation in vitreous specimens as well as in peripheral blood. Althougha firm conclusion cannot be drawn from a single case report, our observations suggest that this case was an example of tissue-specific expression of mtDNA mutation. Further studies of a larger number of patients with familial diabetes mellitus seem justified.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/07/20 alle ore 23:01:47