AMHERST, Mass. — University of Massachusetts Amherst scientist Scott Garman, biochemistry and molecular biology, has received $150,000 from the Charles H. Hood Foundation to study Fabry Disease.
Fabry disease results from a faulty protein and comes in a severe and mild form. The severe form afflicts about 1 in 40,000 males, beginning with chronic pain in the extremities around age five. Eventually, problems occur with the liver, skin, eyes and kidneys, followed by premature death. The mild form of the disease is characterized by heart problems.
First reported in 1898, the disease results from a defective protein known as alpha-galactosidase, or α-GAL, that breaks down carbohydrate-containing compounds in the cell. Garman and his colleagues have already figured out the structure of a normal α-GAL protein using X-ray crystallography, a technique that allows scientists to visualize the shapes of molecules at the atomic level.
“We’ve solved the wild-type, the normal protein structure,” says Garman. “Now we want to understand the molecular basis for the disease.”
There are hundreds of different defects in α-GAL that can lead to Fabry disease, some lead to milder forms, others are more severe. Currently, clinicians can’t predict which molecular defects lead to what symptoms in a patient. The research should shed light on similar genetic diseases, such as Tay-Sachs, which also result from the build-up of compounds that should be broken-down and recycled in the cell.