Abstract
Summary
The sphingolipidoses are hereditary disorders, secondary to enzyme defects, in which lipids accumulate in brain and other organs. The present studies indicate that the abnormal lipid cytosomes are derived from the smooth portion of the endoplasmic reticulum, and that the mitochondria appear to be the organelle that is primarily associated with the enzyme defect. Preliminary studies of mitochondrial fractions from normal and Tay-Sachs disease brains showed that the mitochondrial fraction of normal brains contained 28.6% N-acetyl hexosaminidase A activity, while it was absent in that from Tay-Sachs disease brain.
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