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GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid Î2-galactosidase by Doris Hofer; Karl Paul; Katrin Fantur; Michael Beck; Friederike BÃ1⁄4rger; Catherine Caillaud; Ksenija Fumic; Jana Ledvinova; Agnieszka Lugowska; Helen Michelakakis; Briguita Radeva; Uma Ramaswami; Barbara Plecko; Eduard Paschke is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid Î2-galactosidase about?

Alterations in GLB1, the gene coding for acid b-D-galactosidase (b-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS) function. While most MBD patients carry a common allele, c.817TG4CT (p.W273L), only few of the 4100 mutations known in GM1 can be related to a certain phenotype. In 25 multiethnic patients with GM1 or MBD, 11 missense mutations were found as well as one novel insertion and a transversion causing aberrant gene products. Except c.602G4A (p.R201H) and two novel alleles, c.592G4T (p.D198Y) and c.1189C4G (p.P397A), all mutants resulted in significantly reduced b-Gal activities (o10% of normal) upon expression in COS-1 cells. Although c.997T4C (p.Y333H) expressed 3% of normal activity, the mutant protein was localized in the lysosomal-endosomal compartment. A homozygous case presented with late infantile GM1, while a heterozygous, juvenile case carried p.Y333H together with p.R201H. This allele, recently found in homozygous MBD, gives rise to rough endoplasmic reticulum (RER)-located b-Gal precursors. Thus, unlike classical MBD, the phenoty

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Author

Doris Hofer; Karl Paul; Katrin Fantur; Michael Beck; Friederike BÃ1⁄4rger; Catherine Caillaud; Ksenija Fumic; Jana Ledvinova; Agnieszka Lugowska; Helen Michelakakis; Briguita Radeva; Uma Ramaswami; Barbara Plecko; Eduard Paschke

Publisher

Hindawi Limited

Published

2009

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)