Gamers who have helped scientists understand the structure of hundreds of complex proteins by playing an online protein folding game Foldit are being invited to help work out the structure of an abnormal protein that causes a disabling muscle disorder called limb girdle muscular dystrophy. The project hopes to enlist thousands of volunteers from around the world to help determine the shape of the protein that lies at the root of the disease.
Limb girdle muscular dystrophy, or LGMD, is a rare, inherited disorder that primarily affects the muscles of the upper arms and legs. As the disease progresses, it becomes increasingly difficult for people with LGMD to perform such common activities as lifting objects, standing up from a chair, or climbing stairs. As the disease progresses, it becomes increasingly disabling. Currently there is no effective treatment or cure.
Proteins are made of a string of molecules, called amino acids, which are linked together like beads on a string. The sequence of the amino acids determines the folded shape a protein takes, which in turn determines how the protein works. In order for proteins to function properly they must fold into the right shape. If they don’t, they won’t work well, if at all, which can result in disease.
In the new project, which will be launched on Limb Girdle Muscular Dystrophy Awareness Day, Friday, Sept. 30, the Foldit players will focus on a protein called dysferlin that is believed to help maintain muscle cells and allow them to recover from injury.
People who inherit genes responsible for one form of LGMD, called LGMD-2B, cannot make normal dysferlin. As a result, they become weaker and weaker as their muscles gradually deteriorate.
The goal of the project is to work out the structure of dysferlin to better understand how it functions and what other proteins it interacts with. This information could lead to better treatments and perhaps a cure. LGMD-2B is a special interest of the Jain Foundation, which was founded by Ajit Jain, whose son has the disease.
Full story can be found from University of Washington website.