Researchers at the UA Steele Children's Research Center and Harvard University
Clone Gene that Causes Athabaskan Brainstem Dysgenesis

September 12, 2005
Contact: Darci Slaten (520) 626-7217 or Susan Guthrie (602)631-6555

Genetic diseases can be devastating. Finding the gene that causes such an illness offers hope for prevention and treatment.

The mutated gene that causes "Athabaskan Brainstem Dysgenesis," a devastating disease found in some Southwestern Native American populations, was recently cloned by research teams led by Robert P. Erickson, MD, the Holsclaw Family Professor of Human Genetics and Inherited Disease with the Steele Children's Research Center at The University of Arizona, and Elizabeth Engle, MD, at Harvard University. Their research,"Human HOXA1 syndrome disrupts brainstem, inner ear, cardiovascular and cognitive development" has just been published online in the prestigious scientific journal Nature Genetics.

"Athabaskan Brainstem Dysgenesis" affects Native Americans in Arizona, and has also recently been discovered in a Middle East population. "Athabaskan Brainstem Dysgenesis" causes breathing problems, deafness, inability to move the eyes properly, and mental retardation. In many cases, it also causes congenital malformations of major vessels in the heart, which can lead to death.

The gene, named HOXA1, is one that is known to be involved in patterning the brain stem during early development. Single mutations in other HOX genes are involved in several human diseases, but this is the first case known in which mutations are necessary in both copies of the gene to cause the disease. "The disorder can now properly be called 'Human HOXA1 Syndrome,'" says Dr. Erickson.

"The cloning of this gene will enable us to detect carriers of the gene and provide prenatal diagnosis for those who wish it. Future experiments on this gene may tell us more about the causation of deafness and mental retardation," Dr. Erickson explained.

The research conducted at The University of Arizona through the Steele Children's Research Center was supported by the Muscular Dystrophy Association and the Holsclaw Family Professorship. The work at Harvard was supported by the National Institutes of Health (NIH).

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Susan Guthrie
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University of Arizona, College of Medicine
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