Researchers have solved a medical mystery in a poorly understood disease by uncovering which cells cause tumours in patients with tuberous sclerosis complex (TSC). As described in Cell Reports, they did this by creating genetically engineered kidney organoids, or “mini-kidneys” grown from human tissue.
“The cells at the origin of tuberous sclerosis tumours have been a mystery for decades,” said senior author Dr. Bill Stanford, senior scientist at The Ottawa Hospital and professor at the University of Ottawa. “Our results can help find possible treatment targets for this challenging disease.”
TSC is a rare genetic disease that causes benign tumours in the skin, brain, kidneys, heart or lungs. TSC tumours are very diverse, arising in children or adults with a range of symptoms from mild to life-threatening and often include seizures and kidney problems. There is no cure and treatment options are limited.
“Kidney disease is the leading cause of death in patients with TSC. Around 60 to 80 percent of patients develop tumours in their kidneys, often reducing kidney function and sometimes leading to catastrophic bleeding,” said lead Dr. Adam Pietrobon, MD-PhD student at The Ottawa Hospital and the University of Ottawa. “There were no adequate lab models to study how TSC affects the kidney, so we made one ourselves.”
TSC is caused by mutations in the TSC1 or TSC2 gene. For most patients, these mutations arise spontaneously during development or early life rather than being inherited from their parents. This makes TSC a difficult disease to study. While lab researchers often use animals to study human diseases, there was no animal model that fully captured TSC’s impact on the kidneys.
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