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Research offers new clues to rare genetic disease

Posted July 3, 2017

Credit: MSU

Tuberous sclerosis complex, or TSC, is considered a rare genetic disease, yet for the estimated 50,000 patients in the United States and almost 2 million individuals worldwide, dealing with its symptoms can be overwhelming.

“It’s a devastating disease,” said Jeff MacKeigan, an adjunct associate professor at Michigan State University and lead author of a study.

“For those neonatal, pediatric and adult patients severely afflicted, the management of this disease is constant, making TSC a lifelong chronic disease for both the patient and the caregiver.”

The research is the most comprehensive genomics study to date and provides a detailed roadmap of the genetic pathways involved in tuberous sclerosis, suggesting areas that could be targeted for treatment. Currently, there is no cure.

The genetic disorder causes benign tumors to form in many different organs, including the brain, heart, kidneys, eyes, skin and lungs. Neurologic aspects of the disease include seizures, autism spectrum disorder and cognitive disability. According to MacKeigan, about one-third of the cases are inherited and two-thirds are sporadic.

Although the tumors caused by tuberous sclerosis are not cancerous, they share genetic signaling pathways involved in many forms of cancer. As a result, the study also “serves as a gateway to learn about other genetic variants that could contribute to tumor formation and cancer,” MacKeigan said.

Tuberous sclerosis is caused by mutations in either of two genes, TSC1 and TSC2, both known to suppress tumor growth. Mutations in either gene can cause growth of these tumors and other lesions throughout the body.

“It’s a very complex disease based on its clinical presentation,” MacKeigan said, who is also a long-time researcher at Van Andel Research Institute. “It really is multiple diseases in one.”

MacKeigan will be joining the College of Human Medicine and the MSU Global Impact Initiative later this summer as a professor of cancer biology and complex diseases. He looks to continue this research on a full-time basis at MSU in the coming years.

Katie Martin, co-author on the study, is a scientific project leader within MacKeigan’s lab and provided significant scientific and intellectual input into the study.

Source: MSU

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