A genetic mutation that dates back to the Ottoman empire is believed to be the source of a rare brain disorder.
The genetic cause of this brain disorder was discovered during a "massive analysis" of the genomes of Turkish children suffering from neurodevelopmental disorders, a Yale University news release reported.
"The more we learn about basic mechanisms behind rare forms of neuro-degeneration, the more novel insights we can gain into more common diseases such as Alzheimer's or Lou Gehrig's Disease," Murat Gunel, the Nixdorff-German Professor of Neurosurgery, and professor of genetics and neurobiology at Yale, said in the news release.
To make their findings the researchers compared the genetic data of 2,000 children with neurodevelopmental disorders. The team identified the CLP1 gene in the children of four unrelated families. This suggests the source of the mutation was in ancestors up to 16 generations in the past.
Children suffering from this rare condition experience "intellectual disability, seizures, and delayed or absent mental and motor development," the news release reported. Brain imaging has also shown atrophy in the "cerebral cortex, cerebellum, and the brain stem."
A second study also found CLP1 mutations in 11 children from five separate families.
The researchers suggest the mutation could occur in offspring of parents who are closely related to each other, an occurrence that is prevalent in Turkey. Children suffering from the condition inherit the gene mutation from both parents, in cases where the parents are not related it is very rare for children to inherit similar gene mutations.
"By dissecting the genetic basis of these neurodevelopmental disorders, we are gaining fundamental insight into basic physiological mechanisms important for human brain development and function" Gunel said. "We learn a lot about normal biology by studying what happens when things go wrong."
"Funding for the Gunel study was provided by National Human Genome Research Institute and the Gregory M. Kiez and Mehmet Kutman Foundation," the news release reported.
