Tuberous sclerosis causes: Difference between revisions
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== Overview == | |||
Tuberous Sclerosis is caused by a loss of function mutation of the genes TSC1 and TSC2 which are responsible for the production of hamartin and tuberin. | |||
==Causes== | ==Causes== | ||
Loss of function mutation of the genes TSC1 and TSC2 which are responsible for the production of hamartin and tuberin. These proteins regulate the cell cycle. Damage to this pathway leads to a very variable presentation of benign tumors in multiple systems. TSC1 and TSC2 are both tumor suppressor genes that function according to Knudson's "two hit" hypothesis. That is, a second random mutation must occur before a tumor can develop. | Loss of function mutation of the genes TSC1 and TSC2 which are responsible for the production of hamartin and tuberin. These proteins regulate the cell cycle. Damage to this pathway leads to a very variable presentation of benign tumors in multiple systems. TSC1 and TSC2 are both tumor suppressor genes that function according to Knudson's "two hit" hypothesis. That is, a second random mutation must occur before a tumor can develop. | ||
== | ==References== | ||
[[Category:Genetic disorders]] | |||
[[Category:Disease]] | |||
[[Category:Neurology]] | |||
[[Category:Needs overview]] | |||
<references /> | <references /> | ||
Latest revision as of 16:00, 14 July 2020
Overview
Tuberous Sclerosis is caused by a loss of function mutation of the genes TSC1 and TSC2 which are responsible for the production of hamartin and tuberin.
Causes
Loss of function mutation of the genes TSC1 and TSC2 which are responsible for the production of hamartin and tuberin. These proteins regulate the cell cycle. Damage to this pathway leads to a very variable presentation of benign tumors in multiple systems. TSC1 and TSC2 are both tumor suppressor genes that function according to Knudson's "two hit" hypothesis. That is, a second random mutation must occur before a tumor can develop.