Researchers identify gene behind childhood brain diseases

Discovery of the PLA2G6 gene, whose mutated forms trigger several genetic disorders categorized as neuroaxonal dystrophies, could also shed light on the nerve cell degeneration that leads to such neurological maladies as Parkinson’s and Alzheimer’s diseases, both known to be associated with brain iron accumulation. The identification of the gene’s role in these diseases could make it a target for future therapeutic development.

In a study published in the journal Nature Genetics, an international team of geneticists describe PLA2G6’s discovery using DNA from families with infantile neuroaxonal dystrophy (INAD) and a related disorder known as neurodegeneration with brain iron accumulation (NBIA).

There is no cure nor standard treatment for either disease, which are inherited in a recessive fashion, meaning that both parents must contribute a defective gene to make both copies in the child defective. Incidence is 1 in 500,000 to 1 million.

PLA2G6’s discovery means a clinical test can be developed to help families determine their chances of passing the disorders to their children.

“That’s a direct outcome of this work,” Hayflick said. “There are families who literally are waiting to have this test,” said Dr Susan Hayflick, professor of molecular and medical genetics, pediatrics and neurology in the OHSU School of Medicine.