The butterfly effect is defined as “the sensitive dependence on initial conditions, where a small change at one place in a deterministic nonlinear system can result in large differences to a later state.” In medicine, the identification of a rare disease or a genetic mutation may provide insights that spread well beyond the initial discovery.
And in genetics, scientists are learning just how widespread the effects are for mutations in one gene: filaminA (FLNA).
FLNA is a common cause of periventricular nodular heterotopia (PVNH), a disorder of neuronal migration during brain development. The syndrome was first described by the late Peter Huttenlocher, MD, and the gene was identified by Christopher Walsh, MD, PhD, of Boston Children’s Hospital.
In normal brain development, neurons form in the periventricular region, located around fluid-filled ventricles near the brain’s center, then migrate outward to form six onion-like layers. In PVNH, some neurons fail to migrate to their proper position and instead form clumps of gray matter around the ventricles. …