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Titolo:
Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease
Autore:
Roesler, J; Heyden, S; Burdelski, M; Schafer, H; Kreth, HW; Lehmann, R; Paul, D; Marzahn, J; Gahr, M; Rosen-Wolff, A;
Indirizzi:
Univ Dresden Clin, Kinderklin, Dept Pediat, D-01307 Dresden, Germany Univ Dresden Clin Dresden Germany D-01307 diat, D-01307 Dresden, Germany Univ Klinikum Wurzburg, Wurzburg, Germany Univ Klinikum Wurzburg Wurzburg Germany kum Wurzburg, Wurzburg, Germany Univ Hamburg, Klinikum Eppendorf, Hamburg, Germany Univ Hamburg Hamburg Germany burg, Klinikum Eppendorf, Hamburg, Germany
Titolo Testata:
EXPERIMENTAL HEMATOLOGY
fascicolo: 3, volume: 27, anno: 1999,
pagine: 505 - 511
SICI:
0301-472X(199903)27:3<505:UMASMA>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
MESSENGER-RNA; DIAGNOSIS; CYTOCHROME-B558; DATABASE; GENE;
Keywords:
variant chronic granulomatous disease; dihydrorhodamine 123; missense mutation; splice mutation; symptoms;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Rosen-Wolff, A Univ,Dresden Clin, Kinderklin, Dept Pediat, Fetscherstr 74,D-01307 Dresden Univ Dresden Clin Fetscherstr 74 Dresden Germany D-01307 n
Citazione:
J. Roesler et al., "Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease", EXP HEMATOL, 27(3), 1999, pp. 505-511

Abstract

Chronic granulomatous disease is an inherited disease characterized by theinability of phagocytes to generate normal amounts of superoxide, leaving patients susceptible to opportunistic, life-threatening infections. In the majority of cases, cytochrome bas is absent in the X-chromosomal form of CGD, However, the neutrophils from six of nine X-linked CGD patients, reported here, expressed normal or decreased amounts of this cytochrome and are referred to as "variant" forms. In three of these six variant patients, a roughly proportional decrease in cytochrome b(558) expression and production of H2O2 were found. In two cases this phenotype could be well explained by special splice mutations, whereas in the third case it was caused by a missense mutation, predicting Ser 193 --> Phe, In the other three variant patients, cytochrome b(558) expression and H2O2 production were clearly disproportionate as the generation of H2O2 was much more decreased than cytochrome expression, Missense mutations also were found in these cases. One of these mutations, predicting Leu 546 --> Pro and affecting the putative nicotinamide adenine dinucleotide phosphate binding site, led to normal levels of cytochrome b(558) expression and reduced H2O2 production. In the other two mutations, predicting Pro 339 --> His and His 338 --> Tyr, the putative flavinadenine dinucleotide binding site was affected. This could explain the corresponding uncommon phenotypes, characterized by zero or trace amounts of H2O2 production and the expression of relatively high amounts of nonfunctional or low functional cytochrome b(558), respectively, The only missense mutation found that prevented the expression of any cytochrome b(558) was caused by a predicted His 222 --> Arg exchange in one of the three classic cases. The two other classic phenotypes were caused by splice mutations. (C) 1999 International Society for Experimental Hematology. Published by ElsevierScience Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 03:41:19