Imaging center specialists helped adapt magnetic resonance imaging (MRI) equipment for research by Charles T. Gay, MD, an assistant professor and pediatric neurologist. Brain images from "18Q minus" patients revealed abnormalities in their myelin, a fatty sheath that acts as an insulator for the brain's wiring. Myelin is laid down on the brain's circuitry starting at birth through a person's 20s, promoting brain maturation.
Comparing brain scans to each individual's molecular makeup, Health Science Center geneticists were able to show that every "18Q minus" patient with abnormal myelin lacked a second copy of a gene involved in building myelin. Normal subjects have two copies.
The discovery came in the laboratory of Robin J. Leach, PhD, assistant professor of cellular and structural biology, and involved Barbara R. Dupont, PhD, an assistant instructor, and doctoral student Jannine D. Cody, whose daughter has the syndrome. The geneticists and pediatricians have established further information that links growth hormone insufficiency to "18Q minus." Tests of growth hormone therapy as a potential treatment now are under way.