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Diseases » Tay Sachs Disease » Inheritance

Inheritance and Genetics of Tay Sachs Disease

Genetics of Tay Sachs Disease:

Tay Sachs disease is a genetic disease that exhibits autosomal recessive inheritance.

Tay Sachs Disease: Genetics Information

Genetics of Tay Sachs Disease: Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of a gene (HEXA) on chromosome 15. HEXA codes for the alpha subunit of the enzyme b-hexosaminidase A. This enzyme is found in lysosomes, organelles that break down large molecules for recycling by the cell. Normally, b-hexosaminidase A helps to degrade a lipid called GM2 ganglioside, but in Tay-Sachs individuals, the enzyme is absent or present only in very reduced amounts, allowing excessive accumulation of the GM2 ganglioside in neurons. The progressive neurodegeneration seen in the varied forms of Tay-Sachs depends upon the speed and degree of GM2 ganglioside accumulation, which in turn is dependent upon the level of functional b-hexosaminidase A present in the body. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Tay Sachs Disease refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.


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