Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

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Title:	Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients
Authors:	林瑋德(Wei-De Lin);林炫沛;王仲興(Chung-Hsing Wang);胡務亮;莊志光;林秀捐;蔡育勳(Yuhsin Tsai);陳持平(Chih-Ping Chen);蔡輔仁(Fuu-Jen Tsai)*
Contributors:	中醫學院學士後中醫學系學士班中醫基礎學科;中國附醫醫學研究部遺傳中心
Keywords:	Mucopolysaccharidosis type VI;Arylsulfatase B;Gene mutation;Maroteaux–Lamy syndrome;Lysosomal diseases
Date:	2008-08
Issue Date:	2009-08-20 18:04:35 (UTC+8)
Abstract:	Background Mucopolysaccharidosis type VI (MPS VI; Maroteaux–Lamy syndrome) is an autosomal recessive lysosomal storage disease induced by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB). The deficiency of ARSB leads to an accumulation of dermatan sulfate (DS) in lysosomes and gross excretion in the urine. The prevalence of these mutations in Asian MPS VI patients has not yet been thoroughly investigated. We studied the ARSB gene profile of 9 Taiwanese MPS VI patients. Methods To validate the patients' type of MPS, urine mucopolysaccharide was defined by 2-dimensional electrophoresis and leukocyte ARSB activity was determined by fluorogenic assay. Direct sequencing was used to identify any mutation in the patients' ARSB gene. Results Abnormal excretion of DS and low leukocyte ARSB activity was observed in the urine samples of all 9 patients studied. A total of 8 mutations within the ARSB gene were revealed by molecular analysis. Four mutations, c.574T > C (p.Cys192Arg) and c.943C > T (p.Arg315Stop) mutations had been observed in other populations and c.716A > G (p.Gln239Arg) and c.1197C > G (p.Phe399Leu) were previously reported by our group. The other 4 mutations c.395T > C (p.Leu132Pro), c.908G > A (p.Gly303Glu), c.1228 C > A (p.His430Asn) and c.1394C > G (p.Ser465X), had not been reported before. The c.1197C > G (p.Phe399Leu) and c.395T > C (p.Leu132Pro) mutations were the most common missense mutation in the patients studied (8 in 18 mutant alleles). According to statistical data, the incidence of MPS VI in Taiwan is approximately 1 in 833,000 in live birth. Conclusion The ARSB gene mutation profile in Taiwanese MPS VI patients may be different from MPS VI patients from other countries.
Relation:	CLINICA CHIMICA ACTA 394(1-2):89~93
Appears in Collections:	[School of Post-Baccalaureate Chinese Medicine] Journal articles

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