Tuberous sclerosis

Causes

What gene change causes tuberous sclerosis?

Tuberous sclerosis (TS) is caused by a change (mutation) in one of two genes: TSC1 or TSC2 . Sometimes the change in the TSC1 or TSC2 gene is inherited from a parent. Other times a gene change happens randomly and the person with the gene change is the first in the family to have TS. A "first in the family" gene change is called a de novo mutation.

To find a medical professional nearby who can discuss information about gene changes in tuberous sclerosis, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Tuberous Sclerosis Complex. Genetics Home Reference website. Accessed June 8, 2017. https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
  • DiMario FJ Jr, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 ;62(3):633-48. https://www.ncbi.nlm.nih.gov/pubmed/26022167
  • Caban C, Khan N, Hasbani DM, Crino PB. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2017;10:1-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5189696/
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
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How does the gene change cause symptoms in tuberous sclerosis?

What makes tuberous sclerosis worse?

How does the gene change cause symptoms in tuberous sclerosis?

Tuberous sclerosis is caused by a change in one of two genes: TSC1 or TSC2 . These genes are tumor suppressor genes. Tumor suppressor genes help to control the growth and life cycle of cells. Specifically, they can influence how cells grow and divide to ensure that cells die off at the proper time. The TSC1 gene produces a protein called hamartin. The TSC2 gene produces a protein called tuberin. These proteins are involved in slowing down or inhibiting the mTor pathway. Chemical pathways are a series of complex chemical interactions that occur in the body and are critical for normal human development. The mTor pathway produces mammalian target of rapamycin or mTOR, which is a specialized protein called an enzyme. This enzyme is involved cell growth, spread, and survival. The changes in the TSC1 and TSC2 genes results in this pathway being overactive, leading to more cell growth, spread and survival of certain cells. Eventually, this overgrowth leads to the development of the benign tumors that form in people with tuberous sclerosis.

References
  • Tuberous Sclerosis Complex. Genetics Home Reference website. Accessed June 8, 2017. https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
What makes tuberous sclerosis worse?

Complications in tuberous sclerosis (TS) can be increased when individuals living with TS smoke cigarettes or take estrogen based medicines. Additionally, the removal of a kidney surgically (nephrectomy) can lead to worsening TS issues.

References
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.

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