Tay-Sachs disease: ultrastructural studies on cultured fibroblasts

Abstract

The knowledge that the biochemical lesion associated with Tay-Sachs disease is demonstrable in many tissues, and in particular in cultured fibroblasts, suggested that ultrastructural lesions might also accompany hexosaminidase A deficiency in cultured fibroblasts. Electron microscopic studies on six human skin fibroblast lines and four amniotic fluid fibroblast lines, biochemically confirmed to be deficient in hexosaminidase A, showed characteristic cytoplasmic inclusions not observed in any normal lines studied. Up to 60 of these abnormal cytoplasmic inclusions were observed in full cell cross sections in all affected lines examined.