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Tuberous sclerosis.docx - Tuberous sclerosis. Tuberous...

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Tuberous sclerosis.Tuberous sclerosis (TSC) is an autosomal dominant multisystem disordercharacterised by the development of multiple hamartomas in organs and tissues.This causes tumours to form in the brain and other critical organs such the kidneys,heart, eyes, lungs, and skin. It generally affects the central nervous system and cancause seizures, delayed intellectual development, autism, behavioural problems,skin abnormalities, and renal illness, among other symptoms.One of the commoncharacteristics is the developing of tuber-like growths. Major features of tuberoussclerosis include, angiofibroma (3 or more) or forehead plaque, hypomelanoticmacules (3 or more at least 5mm diameter), ungual fibromas (2 or more), shagreenpatch, multiple retinal hamartomas’, subependymal nodules (2 or more),subependymal giant cell astrocytoma. Prevalence of 8.8 in 100,000 births. Tuberoussclerosis was first mentioned as distinctive facial rash by dermatologists around(1835 to 1850). Von Recklinghausen then provided a complete case in 1862 of braintumours in newborns who only lived shortly. However, Bourneville was credited withhaving first characterized the disease and naming it Tuberous sclerosis in 1880. Theterm tuberous sclerosis complex (TSC) is now routinely used to emphasise thedisease's vast range of symptoms. Not all patients with tuberous sclerosis expressall symptoms. Some may go undiagnosed as it might be mild whereas someexperience serious disabilities.Figure 1: Most common expressed symptoms of Tuberous sclerosis.Tuberous sclerosis is caused by defects, or mutations on TSC1 AND TSC2 genes.For tuberous sclerosis to be present only one of gene need to be affected. The TSC1gene is found on chromosome 9 and TSC2 gene is found on chromosome 16. TSC1gene codes for the protein called hamartin and TSC2 gene codes for the proteincalled tuberin. Hamartin interacts with tuberin, and both the proteins help to control
cell growth, cell size and proliferation. The TSC1 gene is made of 23 exons and theprotein hamartin contains 1164 amino acids. The TSC2 gene consists of 42 exonsand the protein contains 1807 amino acids. The TSC1–TSC2 (hamartin–tuberin)complex is a crucial negative regulator of mTORC1(mammalian target of rapamycincomplex 1)via its GAP(GTPase-activating protein)activity towards the small G-protein Rheb(GTPase-activating protein). mTORC1 activity is extremely sensitive tochanges in cell growth circumstances because it regulates anabolic pathways that

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Cell Cycle, Tuberous sclerosis

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