Researchers Discover New Genetic Brain Disorder in Humans

A newly identified disorder associated with degeneration of the central and peripheral nervous system in humans was reported in a recent issue of Cell. The findings were generated by two collaborative scientific teams by performing DNA sequencing of more than 4,000 families affected by neurological problems. The two research teams independently discovered that a disease marked by reduced brain size and sensory and motor defects is caused by a mutation in a gene called CLP1, which is known to regulate tRNA metabolism in cells. Mutations affecting molecules involved in producing tRNAs have been implicated in human neurological disorders, such as pontocerebellar hypoplasia (PCH), a currently incurable neurodegenerative disease affecting children. Insights into the rare disorder, researchers say, may have important implications for the future treatment of more common neurological conditions. To read more about this study, click here.