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Titolo:
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
Autore:
Yasuda, T; Yamaguchi, N; Kobayashi, K; Nishi, I; Horinouchi, H; Jalil, MA; Li, MX; Ushikai, M; Iijima, M; Kondo, I; Saheki, T;
Indirizzi:
Kagoshima Univ, Fac Med, Dept Biochem, Kagoshima 8908520, Japan Kagoshima Univ Kagoshima Japan 8908520 Biochem, Kagoshima 8908520, Japan Ehime Univ, Sch Med, Dept Hyg, Matsuyama, Ehime 7910295, Japan Ehime UnivMatsuyama Ehime Japan 7910295 Matsuyama, Ehime 7910295, Japan
Titolo Testata:
HUMAN GENETICS
fascicolo: 6, volume: 107, anno: 2000,
pagine: 537 - 545
SICI:
0340-6717(200012)107:6<537:IOTNMI>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
ORTHOTOPIC LIVER-TRANSPLANTATION; SECRETORY TRYPSIN-INHIBITOR; ARGININOSUCCINATE SYNTHETASE; MESSENGER-RNA; CLASSICAL CITRULLINEMIA; UREA CYCLE; ABNORMALITY; DEFICIENCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Kobayashi, K Kagoshima Univ, Fac Med, Dept Biochem, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ 8-35-1 Sakuragaoka Kagoshima Japan 8908520 an
Citazione:
T. Yasuda et al., "Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia", HUM GENET, 107(6), 2000, pp. 537-545

Abstract

Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific deficiency of argininosuccinate synthetase (ASS) protein. We have recently identified the gene responsible for CTLN2, viz., SLC25A13, which encodes a calcium-binding mitochondrial carrier protein, designated citrin, and found five mutations of the SLC25A13 gene in CTLN2 patients. In the presentstudy, we have identified two novel mutations, 1800ins1 and R605X, in SLC25A13 mRNA and the SLC25A13 gene. Diagnostic analysis for the seven mutations in 103 CTLN2 patients diagnosed by biochemical and enzymatic studies has revealed that 102 patients had one or two of the seven mutations and 93 patients were homozygotes or compound heterozygotes. These results indicate that CTLN2 is caused by an abnormality in the SLC25A13 gene, and that our criteria for CTLN2 before DNA diagnosis are correct. Five of 22 patients from consanguineous unions have been shown to be compound heterozygotes, suggesting a high frequency of the mutated genes. The frequency of homozygotes is calculated to be more than 1 in 20,000 from carrier detection (6 in 400 individuals tested) in the Japanese population. We have detected no cross-reactive immune materials in the liver of CTLN2 patients with any of the seven mutations by Western blot analysis with anti-human citrin antibody. From these findings, we hypothesize that CTLN2 is caused by a complete deletion ofcitrin, although the mechanism of ASS deficiency is still unknown.

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Documento generato il 15/08/20 alle ore 19:06:31