Fibroblast screening for chaperone therapy in beta-galactosidosis.

Abstract:

:We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was measured. Mutation analysis was performed simultaneously. Two separate criteria were set for evaluation of the chaperone effect: a relative increase of enzyme activity (more than 3-fold), and an increase up to more than 10% normal enzyme activity. Among the 50 fibroblast strains tested, more than 3-fold increase was achieved in 17 cell strains (34%), and more than 10% normal activity in 10 (20%). Both criteria were satisfied in 6 (12%), and either of them in 21 (42%). Juvenile GM1-gangliosidosis was most responsive, and then infantile GM1-gangliosidosis. This enhancement was mutation-specific. We estimate that the NOEV chaperone therapy will be effective in 20-40% of the patients, mainly in juvenile and infantile GM1-gangliosidosis patients. A molecular design may produce mutation-specific chaperone compounds for the other disease phenotypes. This cellular screening will be useful for identification of human patients with beta-galactosidase deficiency for chaperone therapy to be started in the near future.

journal_name

Brain Dev

journal_title

Brain & development

authors

Iwasaki H,Watanabe H,Iida M,Ogawa S,Tabe M,Higaki K,Nanba E,Suzuki Y

doi

10.1016/j.braindev.2006.02.002

subject

Has Abstract

pub_date

2006-09-01 00:00:00

pages

482-6

issue

8

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(06)00051-9

journal_volume

28

pub_type

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