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001-es BibID:	BIBFORM012946
Első szerző:	Góth László (analitikus)
Cím:	Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus / László Góth, Márta Vitai, Péter Rass, Eszter Sükei, Anikó Páy
Dátum:	2005
Megjegyzések:	The enzyme catalase is the main regulator of hydrogen peroxide metabolism. Recent findings suggest that a low concentration of hydrogen peroxide may act as a messenger in some signalling pathways whereas high concentrations are toxic for many cells and cell components. Acatalasemia is a genetically heterogeneous condition with a worldwide distribution. Yet only two Japanese and three Hungarian syndrome-causing mutations have been reported. A large-scale (23130 subjects) catalase screening program in Hungary yielded 12 hypocatalasemic families. The V family with four hypocatalasemics (60.6 ± 7.6 MU/L) and six normocatalasemic (103.6 ± 23.5 MU/L) members was examined to define the mutation causing the syndrome. Mutation screening yielded four novel polymorphisms. Of these, three intron sequence variations, namely GA at the nucleotide 60 position in intron 1, TA at position 11 in intron 2, and GT at position 31 in intron 12, are unlikely to be responsible for the decreased blood catalase activity. However, the novel GA mutation in exon 9 changes the essential amino acid Arg 354 to Cys 354 and may indeed be responsible for the decreased catalase activity. This inherited catalase deficiency, by inducing an increased hydrogen peroxide steady-state concentration in vivo, may be involved in the early manifestation of type 2 diabetes mellitus for the 35-year old proband.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Blood catalase activity Catalase mutation Diabetes mellitus
Megjelenés:	Electrophoresis. - 26 : 9 (2005), p. 1646-1649. -
További szerzők:	Vitai Márta (1961-) (okleveles vegyész) Rass Péter Sükei Eszter Páy Anikó
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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