Discovery of first dystonia gene found in African-Americans

A pair of studies tells the tale of how a neuroscientist at Mayo Clinic in Florida helped to discover the first African-American family to have inherited the rare movement disorder dystonia, which causes repetitive muscle contractions and twisting, resulting in abnormal posture. The research may improve diagnosis of this neurological condition in a population not known to suffer from it.
In the first study, Mayo Clinic’s Zbigniew Wszolek, M.D., and a team of neuroscientists from other institutions in the U.S. described three generations of an African-American family in Georgia who had dystonia. The team excluded mutations in genes previously associated with dystonia. The study was the first description of an African-American family with late-onset primary dystonia.
In the second study, Dr. Wszolek was part of an international team of researchers led by Mark LeDoux, M.D., Ph.D., a neurologist and neurogeneticist from the University of Tennessee Health Science Center in Memphis. The investigators identified the specific genetic abnormality seen in the African-American family and in several other white families. In the African-American family, the mutation produced a protein in which one amino acid was substituted for another.
While this isn’t the only gene anomaly linked to dystonia, it is the first found in an African-American family. All other genes found to be linked to this disorder were discovered in families of other ethnic origins.
The findings may improve diagnosis and treatment of dystonia in African-Americans, says Dr. Wszolek, who has been a driving force behind international research efforts to uncover genes that play a role in neurological disorders. Mayo Clinic