Tuberous sclerosis complex (TSC) is a genetic disorder that causes benign tumors to form in many different organs, including the brain, eyes, heart, kidney, skin and lungs.  There is a wide range of severity of the disease.  Some people are very mildly affected and don’t find out that they even have it until they are in their late teens or early twenties, while others are diagnosed at an early age, usually due to the presence of  seizures,  heart and kidney conditions.  

Those diagnosed at an early age with intractable seizures are more likely to have developmental delays, mental retardation and autism.   Early intervention, including the controlling the epilepsy as soon as possible with medication, the Ketogenic diet or epilepsy surgery can greatly improve the outcomes for these children.  In addition, special education and autism therapies such as ABA (Applied Behavioral Analysis) can improve the outcomes of those more severely affected and can lead to a better quality of life.

It is currently estimated that tuberous sclerosis affects one in every 6,000 births. Approximately 1 million people are known to have tuberous sclerosis complex (TSC), with approximately 50,000 of those living in the United States.

Two genes have been identified as being responsible for the development of tuberous sclerosis complex. These two genes are responsible for producing tuberin and hamartin. These two proteins are believed to work together to inhibit tumor growth.  Only one of these genes needs to be affected for tuberous sclerosis to occur. The TSC1 gene, which carries the genetic code for hamartin, is located on chromosome 9.  The TSC2 gene, which carries the genetic code for tuberin, is located on chromosome 16.  Both of these proteins work along the mTOR pathways.  mTOR is a serine/threonine protein kinase that regulates cell growth and cell proliferation.  There are currently many studies being done on a drug called Rapmycin and its many components, which work along the same pathways and have been showing promising results.

Most people with tuberous sclerosis will have a normal life span.  Due to the complicatins of benign tumors in organs such as the heart, kidneys and brain, which can lead to severe difficulties if left untreated, people with Tuberous Sclerosis should be regularly monitored throughout their life to ensure their longevity.

The information contained on this website is for informational purposes only.  We are not medical or legal professionals.  Should you be interested in any of the information presented, you should consult your own medical and legal professionals to see if it is appropriate for you.

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