Researchers have cloned a mutated gene that can cause a severe disease in some American Indian and Middle Eastern children.
A research team led by Dr. Robert Erickson, professor of pediatrics and molecular and cellular biology at the University of Arizona, has cloned the gene that causes Athabaskan brainstem dysgenesis, a rare neuromuscular disorder in Navajo and Apache Indians.
Researchers led by Dr. Elizabeth Engle of Harvard University studied the disease in people of Saudi Arabian and Turkish decent.
The research was published online this week in the journal Nature Genetics.
"It’s in a class of genes that have been tremendously important for understanding brain development," Erickson said. "It gives us new understanding of genes that are involved in hearing and overall intellect."
The discovery could help identify carriers of the gene, named HOXA1, and diagnose children.
The condition causes mental retardation, deafness, breathing problems, the inability to move the eyes vertically, and in many cases, heart problems.
Erickson said he expects that the disorder will be diagnosed in more children and among people of different racial backgrounds.
The disease occurs in about one of every 200,000 people, but researchers are now trying to determine the frequency of carriers in affected populations, said Erickson.
Researchers are also trying to understand why American Indians in the Southwest have more severe symptoms — including more cases of severe retardation — than the Saudi Arabian and Turkish people studied.
The Muscular Dystrophy Association, Holsclaw Family Professorship, and National Institutes of Health supported the research.
