Mutations in protein cause rare neurological disorder

In a paper published recently in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia. The disorder, scientists found, is caused by mutations in a protein called GEMIN5 — one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease. “It’s just like building a house,” said senior author Udai Pandey, Ph.D., associate professor of pediatrics, human genetics, and neurology at the University of Pittsburgh School of Medicine. “You take out the most important brick at the base and the whole building falls apart.

GEMIN5 is part of a protein complex that regulates a slew of important cellular processes, including development of specialized outgrowths from nerve cells called dendrites and axons. Interestingly, mutations in another key protein of the complex, named survival motor neuron protein, cause a different devastating disorder — spinal muscular atrophy. To gather material for the study, Pittsburgh researchers contacted pediatricians, geneticists, and neurologists from all over the globe, eventually collecting data from 30 patient families in 12 different countries. The Nation