Study Reveals Gene Therapy as a Possible Tuberous Sclerosis Complex Treatment

According to a story from, a team of scientists affiliated with Massachusetts General Hospital has conducted a study revealing that gene therapy could be an effective treatment for tuberous sclerosis complex, a rare illness. This is a significant finding as this disease has very limited options for treatment. This study utilized a mouse model of one of the genetic mutations most frequently associated with the disease.

About Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a rare genetic disease that causes a variety of symptoms. It is most distinguished by the appearance of non-cancerous tumors, which grow in the brain, lungs, eyes, liver, skin, and other organs. The disease is triggered by mutations affecting the TSC1 or TSC2 genes, which code for proteins that normally suppress the appearance of tumors. Tuberous sclerosis complex can inflict a variety of symptoms, such as intellectual disability, skin changes, disease affecting the lungs or kidneys, behavioral abnormalities, developmental delays, and seizures. The broad systemic impacts of the disease require frequent management and monitoring of tumors; a variety of specialist expertise may be necessary. Outcomes vary, but with good management most patients have a normal life expectancy. Many patients with mild symptoms remain undiagnosed. To learn more about tuberous sclerosis complex, click here.

About The Study

The mice used in this study had mutations in the TSC2 gene, which codes for a protein called tuberin. This protein plays a role in controlling cell growth and proliferation. Mutations in this gene means that cells fail to produce tuberin. Without this protein, cell growth becomes uncontrolled, leading to the appearance of tumors. The mice displayed clear signs of disease, such as shortened lifespan and brain abnormalities that resemble those seen in human patients.

The scientists developed a DNA that codes for a condensed version of tuberin and delivered it to the mice through an adeno-associated viral vector, the most commonly used delivery system for gene therapy. After the gene therapy was administered, the affected mice saw their lifespan increase by an average of 462 days. In addition, the indicators of brain damage were reduced. 

The researchers concluded that these signs all point to the potential for gene therapy to be a viable option for the treatment of tuberous sclerosis complex. The original study was published in the journal Science Advances. Click here to check it out.

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