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Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

Title
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria
Authors
Lee S.-J.Lee D.H.Yoo H.-W.Koo S.K.Park E.-S.Park J.-W.Lim H.G.Jung S.-C.
Ewha Authors
정성철박주원
SCOPUS Author ID
정성철scopus; 박주원scopus
Issue Date
2005
Journal Title
Journal of Human Genetics
ISSN
1434-5161JCR Link
Citation
vol. 50, no. 12, pp. 648 - 654
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (CBS) gene. Patients may develop serious clinical manifestations such as lens dislocation, mental retardation, osteoporosis, and atherothrombotic vascular disease. Over 100 mutations have been reported, but so far, none have been reported in Korea. Mutation analysis of the CBS gene in six Korean patients with homocystinuria was performed by direct sequencing. Eight mutations were identified, including four known mutations (T257M, R336C, T353M, and G347S) and four novel mutations (L154Q, A155V, del234D, and A288T). All patients were compound heterozygotes. To characterize these mutations, normal or mutated forms of CBS were cloned into pcDNA3.1 expression vector followed by transfection into mammalian cells for transient expression. Whereas the expression levels of mutant proteins were comparable to that of normal control, enzyme activities of all the mutant forms were significantly decreased. In addition, a novel single nucleotide polymorphism, R18C, was identified, which showed one-third to two-thirds the enzyme activity of wild type and 1% of the allele frequency in normal control. The spectrum of mutations observed in Korean patients bears less resemblance to those observed in Western countries. © The Japan Society of Human Genetics and Springer-Verlag 2005.
DOI
10.1007/s10038-005-0312-2
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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