Tuberous sclerosis 1

Tuberous Sclerosis 1 Tuberous Sclerosis 1 (TS1) is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. The condition is caused by mutations in the TSC1 gene, which provides instructions for making a protein called hamartin. This protein is involved in regulating cell growth and division.

Genetics

Tuberous Sclerosis 1 is an autosomal dominant disorder, meaning that a mutation in just one of the two copies of the TSC1 gene in each cell is sufficient to cause the condition. The TSC1 gene is located on chromosome 9q34. Genetic inheritance

Symptoms

The symptoms of Tuberous Sclerosis 1 can vary widely among affected individuals, even within the same family. Common symptoms include:

• Skin abnormalities: These may include hypomelanotic macules (light-colored patches), facial angiofibromas, and shagreen patches.
• Neurological symptoms: Seizures, intellectual disability, and developmental delay are common.
• Renal involvement: Angiomyolipomas, which are benign kidney tumors, can occur.
• Pulmonary involvement: Lymphangioleiomyomatosis (LAM) can affect the lungs, particularly in women.

Diagnosis

Diagnosis of Tuberous Sclerosis 1 is based on clinical criteria and genetic testing. The presence of characteristic signs and symptoms, along with a family history, can lead to a diagnosis. Genetic testing can confirm mutations in the TSC1 gene.

Treatment

There is no cure for Tuberous Sclerosis 1, but treatment focuses on managing symptoms and complications. This may include:

• Medications: Antiepileptic drugs for seizures, mTOR inhibitors like everolimus for tumor growth.
• Surgery: To remove tumors that cause significant problems.
• Supportive therapies: Such as physical therapy, occupational therapy, and educational support.

Prognosis

The prognosis for individuals with Tuberous Sclerosis 1 varies depending on the severity of symptoms and the organs affected. With appropriate management, many individuals can lead relatively normal lives.

Research

Ongoing research is focused on understanding the molecular mechanisms of Tuberous Sclerosis 1 and developing targeted therapies. Clinical trials are exploring new treatments that may improve outcomes for affected individuals.

See Also

• Tuberous Sclerosis Complex
• Genetic Disorders
• Autosomal Dominant Inheritance
• National Institute of Neurological Disorders and Stroke. "Tuberous Sclerosis Fact Sheet."
• Genetics Home Reference. "TSC1 gene."

NIH genetic and rare disease info

• NIH info on Tuberous sclerosis 1

Tuberous sclerosis 1 is a rare disease.