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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học quốc tế cung cấp cho các bạn kiến thức về ngành y đề tài: Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity | Yang et al. Journal of Biomedical Science 2010 17 79 http www.jbiomedsci.eom content 17 1 79 tì.NSC The cost of publication in Journal of Biomedical Science Is borne by the National Science Council Taiwan JOURNAL OF BIOMEDICAL SCIENCE RESEARCH Open Access Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity Chi-Fan YangH Jer-Yuarn Wu1 2t Fuu-Jen Tsai3 4 5 Abstract Background GM1 gangliosidosis GM1 is an autosomal recessive lysosomal storage disease caused by deficiency of acid beta-galactosidase GLB1 EC3.2.1.23 . Here we identify three novel mutations in the GLB1 gene from two Han Chinese patients with GM1 that appear correlated with clinical phenotype. Methods One of the two Han Chinese patients with GM1 presented with the juvenile form and the other with the infantile form with cardiac involvement. Sequencing of the entire GLB1 gene revealed three novel mutations p.H102 D p.G494V c.495_497delTCT which were absent in 94 normal controls. Transient expression of cDNA encoding these variants was performed in COS-1 cells to evaluate p-galactosidase activities. Results The first case patient 1 with the juvenile form contained two missense mutations p.H102 D and p.A301V. Patient 2 diagnosed with the infantile form of the disease with cardiac involvement was compound heterozygous for p.G494V and c.495_497delTCT mutations. All mutant beta-galactosidases exhibited significantly reduced activity 12 0 0 and 0 for p.H102 D p.A301V p.G494V and c.495_497delTCT compared with the wild-type betagalactosidase cDNA clone. The mutations identified in patient 2 with cardiomyopathy were localized in the GLB1 gene region common to both lysosomal beta-galactosidase and elastin binding protein EBP and caused a deletion in the elastin-binding domain of EBP. Conclusions All four mutations identified in Han Chinese patients induce significant suppression of p-galactosidase activity correlating with severity of .
