Tuberous Sclerosis

Tuberous sclerosis, alike known as TSC (tuberous sclerosis complex) is an autosomal preponderating genetic dis vow which coiffes neoplasms to form in numerous of the bodys vital organs. The central nervous ashes is as well affected with manifestations of autism, behavioral problems, and learning difficulties. Hamartomas, or friendly tumors nigh frequently affect the brain, scratch, heart, kidneys, and lungs. This disease affects individuals across a immense spectrum; some atomic number 18 severely affected, bit others energize minimal symptoms. Two genes cast been identified as the cause of this disease. Individuals with tuberous sclerosis 1 (TSC1) put up a innovation in the TSC1 gene on chromosome 9. This gene is also called the hamartin gene. Individuals with tuberous sclerosis 2 (TSC2) adjudge a variety in the TSC2 gene, also known as the tuberin gene, on chromosome 16. both(prenominal) of these genes are thought to suppress the growth of tumors in the body. Individuals with TSC have a defect in a gene suppressing tumor growth, resulting in the tuberous sclerosis complex. Early fetal evolution of the skin and brain is also regulated by these genes. TSC1 cases reckon for 10 to 30% of individuals with tuberous sclerosis. TSC2 frequency is high from 75 to 80% of cases. Between 15 to 20% of individuals do non have the TSC1 or TSC2 mutation.

Their mutation is not identifiable, and may be explained by mosaicism. TSC2 can be associated with more severe mutations including a higher(prenominal) prevalence for learning disability, autism, and infantile spasms , while individuals with TSC1 may not be as ! affected in these areas. Although some patients with TSC are not identified to have TSC1 or TSC2, there is no evidence for other TSC genes. The lack of apparent mutation in those 15 to 20% could be attributed to our inability to detect the mutation, or failure of technology. While pedigrees often support autosomal prevailing inheritance of tuberous sclerosis, up to 86% are a result of de novo heterozygous...If you want to get a full essay, read it on our website: OrderCustomPaper.com

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