Cultured skin fibroblasts from hexosaminidase A deficient adults synthesize the α and β chain precursors of β-hexosaminidase (EC 184.108.40.206) of the same molecular weight as that synthesized by normal fibroblasts. However, the amount of the α chain precursor is greatly reduced. The α chain precursor in secretions from these fibroblasts consists of 19% of the total β-hexosaminidase secreted compared to about 50% in normal cells. Attempts to increase the amount of detectable cellular α chain precursor by addition of protease inhibitors or by more extensive extraction methods have failed. Mature α chains were not detected. The presence of α chain precursor in fibroblasts from hexosaminidase A deficient adults can be used to distinguish between them and true Tay-Sachs disease homozygotes.
|Number of pages
|Biochemical and Biophysical Research Communications
|Published - 29 Feb 1984