Biochemistry

Gangliosides are a family of acidic complex lipids called glycosphingolipids. Gangliosides are present to some degree in most of the body's tissues, but are found primarily in the brain (Svennerholm 1980). More than 40 different molecular forms have been discovered, four of which comprise 65 percent to 85 percent of the total ganglioside content of mammalian brains (Rapport 1981). Though the role of gangliosides in neural physicology is not completely understood, the basic biochemical cause of TSD remains straightforward. In persons with TSD, unusually large amounts of GM2 ganglioside accumulate in the brain and associated tissues, thus disrupting their normal development and function. This accumulation is due to the lack of a functional specific enzyme, hex A, that breaks down the GM2 ganglioside. Hex A activity can be assessed by a serum enzyme assay (O'Brien et al. 1970). This has led to the discovery by many investigators that heterozygous carriers of the TSD gene have roughly only half the hex A activity of individuals homozygous for the normal allele. This is apparently enough, however, for normal catabolism of the GM2 ganglioside. In fact, G. Bach and colleagues (1976) reported a healthy adult TSD heterozygote woman with only 22 percent hex A activity.

Your Heart and Nutrition

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