-- Robert Preidt
FRIDAY, May 6 (HealthDay News) -- Mutations in a single gene
have a major influence on the size and shape of the human cerebral
cortex, the part of the brain that plays a key role in high-level
functions such as language, memory, attention and
That's the finding of a new study by researchers who conducted
genetic analyses of three families -- one Turkish, two Pakistani --
with children that have the most severe form of a condition called
microcephaly. The children's brains are just 10 percent of normal
size and lack the normal structure of the human brain.
The researchers determined that the children's microcephaly was
caused by mutations in a gene called centrosomal NDE1, which is
involved in cell division.
"The degree of reduction in the size of the cerebral cortex and the effects on brain morphology suggest this gene plays a key role in the evolution of the human brain," co-senior author Murat Gunel, a professor of neurosurgery and of genetics and neurobiology at Yale School of Medicine, said in a Yale University news release.
"These findings demonstrate how single molecules have influenced the expansion of the human cerebral cortex in the last five million years," Gunel added. "We are now a little closer to understanding just how this miracle happens."
The study was published April 28 in the
American Journal of Human Genetics.
The U.S. National Institute of Neurological Disorders and Stroke
has more about
the human brain.
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