What is Tuberous Sclerosis? |
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Tuberous Sclerosis is a genetic disorder which causes benign tumors to appear in many major organs of the body. The tumors typically appear in the brain, heart, kidney, eye, skin and lungs. The threat of the tumors is the irritation to the proper function of the affected organ. For example brain tumors may cause epilepsy and mental impairment. Eighty percent of those with Tuberous Sclerosis suffer from seizures. Fifty percent suffer from mental impairment with twenty-five percent of those presenting with autism. Eighty percent have some kind of skin manifestation through white patches, facial tumors, or thickened patches. Sixty percent have kidney involvement and three percent have lung involvement. Eighty percent have eye tumors and all TS adults are noted to have pits in teeth. Other organs more rarely affected are liver, pancreas and bones. There is no known cure for Tuberous Sclerosis. The prevalence rate is estimated to be 1 in 10,000 in the general population and 1 in 6,000 in live births. TS affects both sexes and all races and ethnic groups. There are approximately 25,000 to 40,000 individuals with TS in the United States and 1,000,000 worldwide. Sixty percent of those affected by Tuberous Sclerosis are caused by a new mutation to the genes. The other forty percent are inherited at conception from a parent's genetic make-up. There is presently no known cause of "new mutations". An individual affected by Tuberous Sclerosis has a fifty percent chance of passing the gene on to a child. There is no test that can be performed on an individual to rule-out Tuberous Sclerosis. Examination of symtoms of typically affected organs can give an idea whether an individual carries the TS gene. Research is vitally important to those affected by Tuberous Sclerosis. There are two genes that cause TS. The gene on Chromosome 16 has already been found and mapped out. The gene on Chromosome 9 has not been located but is being searched for at this time. It is believed that "Tuberin" is the missing protein in TS patients which suppresses tumors throughout the body. If this is the case and can be reproduced, genetic therapy could be administered thereby controlling tumor production in a patient with Tuberous Sclerosis and eliminating the complications. Another benefit of genetic research would be genetic testing for TS which would result in early diagnosis and treatment. Symptoms like autism and epilepsy will be more completely understood and an increase in the overall understanding of other similar genetic disorders like Fragile X.
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