Bilateral frontoparietal polymicrogyria (BFPP) is a recessive genetic disorder resulting in severely abnormal architecture of the brain’s frontal lobes, as well as milder involvement of parietal and posterior parts of the cerebral cortex, which is “the part of the brain that distinguishes humans from other species,” says the study’s senior author, Christopher A. Walsh, M.D., Ph.D., a Howard Hughes Medical Institute investigator at BIDMC’s Neurogenetics Division and Bullard Professor of Neurology at Harvard Medical School.
In this new study, lead author Xianhua Piao M.D., Ph.D., and colleagues identified the BFPP gene as GPR56, which plays an especially important role in the frontal portions of the cortex.
Walsh’s laboratory identifies genes that disrupt the normal cerebral cortex development, thereby helping to define the clinical syndromes of certain human developmental disorders. These new findings, he says, suggest that GPR56 may have been a key target in the evolution of the cerebral cortex.
“Being able to access the complete sequence of the human genome has allowed us to identify increasing numbers of genes that are required for cortical development,” he adds. “Although these genes cause mental retardation, by studying the biological function of their gene products we also gain insight into the normal development and function of the human brain.”