Rare Disease's Gene May Illuminate Major Disorders 06/19/06
Portland, Ore. OHSU discovery of gene behind iron accumulation
in brain has implications for Parkinson's, Alzheimer's Oregon
Health & Science University researchers have identified the gene
behind a group of rare, progressive childhood disorders caused
by an abnormal buildup of iron in the brain. Discovery of the
PLA2G6 gene, whose mutated forms trigger several genetic
disorders categorized as neuroaxonal dystrophies, could 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. "If
you're a family with a kid with one of these diseases, the
impact is clear, specific and personal," said Susan J. Hayflick,
M.D., professor of molecular and medical genetics, pediatrics
and neurology in the OHSU School of Medicine. But because it may
heighten understanding of other, better-known neurological
disorders, "To the general population, (