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Diseases » Tuberous sclerosis » Inheritance

Inheritance and Genetics of Tuberous sclerosis

Tuberous sclerosis: Genetics Information

Genetics of Tuberous sclerosis: Two loci for tuberous sclerosis have been found: TSC1 on chromosome 9, and TSC2 on chromosome 16. It took four years to pin down a specific gene from the TSC1 region of chromosome 9: in 1997, a promising candidate was found. Called hamartin by the discoverers, it is similar to a yeast protein of unknown function, and appears to act as a tumor suppressor: without TSC1, growth of cells proceeds in an unregulated fashion, resulting in tumor formation. TSC2 codes for a protein called tuberin, which, through database searches, was found to have a region of homology to a protein found in pathways that regulate the cell (GAP3, a GTPase-activation protein). (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Tuberous sclerosis 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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