Hexosaminidase a deficient adults: Presence of α chain precursor in cultured skin fibroblasts

Amos Frisch*, Dana Baram, Ruth Navon

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Cultured skin fibroblasts from hexosaminidase A deficient adults synthesize the α and β chain precursors of β-hexosaminidase (EC 3.2.1.30) 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.

Original languageEnglish
Pages (from-to)101-107
Number of pages7
JournalBiochemical and Biophysical Research Communications
Volume119
Issue number1
DOIs
StatePublished - 29 Feb 1984

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