The Presence of a Reduced Amount of 32-kd "protective" Protein is a Distinct Biochemical Finding in Late Infantile Galactosialidosis

Overview

Journal Hum Genet

Specialty Genetics

Date 1988 Nov 1

PMID 3142815

Citations 6

Authors

P Strisciuglio

G Parenti

C Giudice

S Lijoi

A T Hoogeveen

A dAzzo

Affiliations

Soon will be listed here.

Abstract

The biochemical defect underlying the late infantile form of galactosialidosis has been investigated in fibroblasts from two patients presenting with this phenotype. Immunoprecipitation experiments demonstrated that a reduced amount of 32-kd "protective" protein and a normal amount of its precursor are present in late infantile galactosialidosis fibroblasts, while neither of the two polypeptides are detectable in early infantile and juvenile/adult fibroblasts. Leupeptin treatment led to a slight increase in the amount of 54-kd and 32-kd polypeptides in both late-infantile galactosialidosis cell lines. Uptake studies in one of the two cell lines confirmed the hypothesis that a block in the maturation of the protective protein is responsible for the late infantile type of galactosialidosis. This mutation seems to be a distinct finding in all patients affected by this form of the disease.

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A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.

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Galactosialidosis: neuropathological findings in a case of the late-infantile type.

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