A study of tuberous sclerosis, a syndrome associated with autism, suggests a new treatment approach that could extend to other forms of autism.
The genetic disorder tuberous sclerosis complex (TSC) causes autism in about half of the children affected. Because its genetics are well defined, TSC offers a window into the cellular and network-level perturbations in the brain that lead to autism. A study published today by Cell Reports cracks the window open further, in an intriguing new way. It documents a defect in a basic housekeeping system cells use to recycle and renew their mitochondria.
Mitochondria are the organelles responsible for energy production and metabolism in cells. As they age or get damaged, cells digest them through a process known as autophagy (“self-eating”), clearing the way for healthy replacements. (Just this month, research on autophagy earned the Nobel Prize in Physiology or Medicine.)
Mustafa Sahin, MD, PhD, Darius Ebrahimi-Fakhari, MD, PhD, and Afshin Saffari, in Boston Children’s Hospital’s F.M. Kirby Neurobiology Center now report that autophagy goes awry in brain cells affected by TSC. But they also found that two existing medications restored autophagy: the epilepsy drug carbamazepine and drugs known as mTOR inhibitors. The findings may hold relevance not just for TSC but possibly for other forms of autism and some other neurologic disorders. …