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Tuberous sclerosis (TSC) (1).pdf - Tuberous sclerosis (TSC)...

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Tuberous sclerosis (TSC) The molecular biology of TSC1 andTSC2IntroductionTuberous sclerosis (TSC) first discovered in the 1880's by a French physician namedBourneville and initially described by von Recklinghausen in 1862, the prevalence rate ofTSC is estimated at 1/10,000. It is a rare autosomal dominant genetic disorder that cantarget various parts of the body and is specified by the increased hamartoma malformation(Zamora, Aeddula, 2020). Major features of the disease include that it causes benign(noncancerous) tumors that grow in the kidneys, skin, lungs, brain and heart which as aresult cause organ abnormalities ( Northrup, Krueger, 2014). TSC patrons sufferneurological symptoms, such as epilepsy, autism, seizures and impaired intellectualdevelopment.The two genes involved in Tuberous sclerosis are TSC1 and TSC2 encodinghamartin and turberin which act as growth suppressors.TSC1The TSC1 gene is found on chromosome 9 and encodes 23 exons for its product proteinhamartin. 587-bp region + 77 to -510 bp is the region where maximal promoter activity ispresent (2). The TSS sight of the gene does not contain a TATA box or CAAT box (2).Furthermore the fragment of 521- bp that surround the TSS displays the properties of aCpG island which interfere with the promoter region (2). Also the transcription factors ofthe protein are found in the upstream region. Hamartin the expected product its is ahydrophilic protein found in the cytoplasm, that contains 1164 amino acids and 130 KDa.

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