Researchers have found out the reason for a rare neurologic syndrome
Scientists from Liverpool University have found mutations associated with dystonia. This is a rare syndrome in which a constant or spasmodic contraction of muscles occurs. It is inherited or may be a consequence of an injury. The syndrome affects different parts of the body, UPI.com reports.
A team of specialists have established that a mutation in the gene coding hippocalcin, causes the development of dystonia. Hippocalcin is one of the signaling proteins of the nervous system. Mutations do not affect its expression or structure, but disturbs its ability to control signaling.
The study has showed that hippocalcin interacts with certain types of calcium channels regulating neuronal activity. The mutations lead to the channels’ hyperactivation. Apparently, the scientists’ discovery will help to develop new methods of dystonia treatment.