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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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001-es BibID:	BIBFORM012813
Első szerző:	Góth László (analitikus)
Cím:	A Novel Catalase Mutation (a GA Insertion) Causes the Hungarian Type of Acatalasemia / Góth L., Shemirani A. H., Kalmár T.
Dátum:	2000
ISSN:	1079-9796
Megjegyzések:	Acatalasemia, a deficiency of enzyme catalase, is an autosomal recessive syndrome with an incidence of 5:106 in Hungary. We have examined the first Hungarian acatalasemic family for the disease-causing mutation. All exons of the catalase gene were screened by PCR-SSCP, PCR-heteroduplex, and nucleotide sequence analysis. The heteroduplex formation detected in exon 2 was verified by nucleotide sequence analysis. We found a GA insertion at nucleotide position 138, increasing the GA repeat number from 4 to 5. This GA insertion caused a frameshift in the amino acid sequence from position 68 to 133 and generated a TGA terminating codon at amino acid position 134. This truncated protein lacks the essential amino acid (histidine 74) in the active center. This finding can explain the decreased blood catalase activity in the Hungarian acatalasemic family.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban mutation catalase acatalasemia GA insertion
Megjelenés:	Blood Cells Molecules And Diseases. - 26 : 2 (2000), p. 151-154. -
További szerzők:	Kalmár Tibor Shemirani, Amir-Houshang (1971-) (kutató orvos, laboratórium szakorvos)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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