Scientists Discover New Neurodegenerative Disorder That May Provide Clues to Alzheimer's

A study in the American Journal of Human Genetics determined that a mutation of the NRROS gene causes a rare childhood-onset neurodegenerative disorder, and couples who both carry the mutant gene have a one in four chance of giving birth to an affected child, reports Being Patient . The mutant gene hinders the signaling pathway of their brains known as transforming growth factor beta-1 (TGF-ß1) from anchoring in cells' surfaces. The researchers theorize that the NRROS mutant causes TGF- ß1 to be overly active, leading to unchecked activation of microglia and inducing inflammation in the brain, which also is a factor in Alzheimer's. "It's intriguing to me that there's some overlap with the pathogenesis of more common neurodegenerative adult diseases like Alzheimer's in which we see that inappropriate activation of the microglia," said Murdoch Children's Research Institute Professor Susan White. "And so maybe, just maybe, there's something we can learn from this ultra-rare neurodegenerative disorder which can help us better understand the devastating disease that is Alzheimer's."