Tuberous Sclerosis Research Paper

Decent Essays
Tuberous Sclerosis, or TSC, is a genetically inherited disease that is characterized by the numerous benign tumors in many parts of the body. It can cause symptoms such as developmental delay, autism, tumor, and skin abnormalities. Tuberous Sclerosis is caused by a mutation on the TSC1 gene located on chromosome 9 or the TSC2 gene located on chromosome 16. These genes make a protein called tuberin, and scientist believe Tuberous Sclerosis is caused when those genes mutate and produce more tuberin which would then allow the tumors to grow. However, only one of the genes needs to be affected for Tuberous Sclerosis to show up, so this makes this gene very rare.
Another concern that makes this disease threatening is the lack of prenatal tests.

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