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OHSU Researchers Find Fourth and Perhaps Final Gene Involved in "Overheating" Disorder

   Portland, Ore.

OHSU Researchers Find Fourth and Peahaps Final Gene Involved in "Overheating" Disorder

For most 2-year-olds, having the flu is an unpleasant but normal occurrence. However when Mitchell Butzner of Albany had the flu in November of 1998, it was a near-fatal experience. That¹s because Mitchell doesn¹t have any sweat glands. His lack of a natural air conditioning system is due to a rare genetic condition he was diagnosed with at Doernbecher Children¹s Hospital, called hypohidrotic ectodermal dysplasia (HED). HED is a relatively rare disease affecting one out of every 20,000 people. Because of the condition, Mitchell isn¹t allowed to go outside on hot days and must be careful not to exert himself and overheat.

This week, Mitchell¹s family is pleased with the latest announcement from Oregon Health & Science University. Researchers at OHSU are part of a research team that has located the fourth and perhaps final gene involved in the development of HED. The genetic disorder can also involve baldness and absent or malformed teeth. OHSU¹s work was directed by Jonathan Zonana, M.D., Betsy Ferguson, Ph.D., and Stephanie Emmal of the Department of Molecular and Medical Genetics in OHSU's School of Medicine. Paul Overbeek, M.D., and Denis Headon, Ph.D., from the Baylor College of Medicine collaborated on the research which will be published in the Dec. 20 edition of the journal Nature.

"In 1996, scientists at OHSU collaborated with other international researchers to locate the first gene involved in HED. This gene was found on the X-chromosome and resulted in the most common form of the disease. The gene is carried by women, but the disease primarily affects boys. Now five years later, we have identified three additional genes including what may be the last major gene responsible for HED," said Zonana. "Locating of this gene, named EDARADD, not only helps researchers understand the workings of HED, but will help in efforts to diagnose the genetic disorder and provides yet another drug target for scientists."

In addition to the benefits this finding may provide to HED patients and their families, the discovery could also have applications for the larger, general public. Researchers at OHSU and their colleagues at Baylor believe the four HED genes may work together in the development of hair follicles and appear to be linked to hair growth.

"Perhaps these four genes together are involved in a chemical pathway that can be triggered by a drug to stimulate hair growth. This may benefit people battling baldness by allowing for the re-growth of hair or by halting the loss of hair," said Zonana. "However, its important to note that this is a theory and much more research needs to be done in this area. The real purpose of our work was to better understand and help treat HED."

Despite his lack of sweat glands and the need for dentures due to missing teeth, Mitchell and many other kids with HED have learned to enjoy life to it¹s fullest.

"He recently started playing soccer," says Kim Butzner, Mitchell¹s mom. "While he needs to drink lots of liquids and watch that he doesn¹t overexert himself, Mitchell is a very normal 5-year-old boy."

This research was supported by the National Institute of Dental and Craniofacial Research, a component of the National Institutes of Health.

For more information on hypohydrotic ectodermal dysplasia, visit the National Foundation for Ectodermal Dysplasias at

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