The presence of a reduced amount of 32-kd 'protective' protein is a distinct biochemical finding in late infantile galactosialidosis.

Autor: Strisciuglio, P., Parenti, G., Giudice, C., Lijoi, S., Hoogeveen, A., d'Azzo, A.
Zdroj: Human Genetics; 1988, Vol. 80 Issue 3, p304-306, 3p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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