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001-es BibID:	BIBFORM042792
Első szerző:	Góth László (analitikus)
Cím:	A new type of inherited catalase deficiencies : its characterization and comparison to the Japanese and Swiss type of acatalasemia / László Góth
Dátum:	2001
ISSN:	1079-9796
Megjegyzések:	Thirteen Hungarian families that exhibited inherited catalase deficiencies have been detected.Differences between the deficiencies reported from Hungary and the previously reported Swiss acatalasemia werecharacterized using biochemical analysis of the catalase proteins. Molecular biological methods were used tocompare the previously reported types of catalase deficiencies in Japan and the Hungarian deficiencies. Threemutations (a GA insertion in exon 2, a G insertion in exon 2, and a T to G substitution in intron 7) are responsiblefor decreased catalase activity in 7 of the 13 Hungarian kindreds; the other 6 families have not yet beencharacterized. These are not the mutations observed in Japan. Changes in lipid and carbohydrate metabolism andthe high incidence (12.7%) of diabetes mellitus in the Hungarian kindreds suggest that individuals with inheritedcatalase deficiency are at risk of atherosclerosis and diabetes mellitus. The Hungarian subjects were detectedduring screening of a large population for catalase activity; no overt disease state was associated with thedeficiencies. We hypothesize that the increased risk of disease may be due to prolonged exposure to elevated levelsof blood hydrogen peroxide due to the lack of normal removal of hydrogen peroxide by blood catalase
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban acatalasemia hypocatalasemia catalase mutation Hungary
Megjelenés:	Blood Cells Molecules And Diseases. - 27 : 2 (2001), p. 512-517. -
Pályázati támogatás:	TO 30154 OTKA
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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