Treatment Sought for Self-Mutilation Disorder

SAN DIEGO — Researchers at the University of California, San Diego, say they have taken an important step toward developing a treatment for a hereditary disorder whose victims develop an urge for self-mutilation.

People with Lesch-Nyhan disease are lacking a particular enzyme and suffer from retardation and cerebral palsy. They often have to be restrained from gnawing on their fingers and hands or poking out their eyes.

UC San Diego researchers successfully inserted the missing gene for the enzyme into human bone marrow using an engineered virus as a carrier. The process was done in a laboratory, but researchers say it represents a “logical” step toward one day treating the disease through genetic therapy.

Techniques Used Before

“We’re taking techniques that have worked in certain varieties of systems and are asking if the human bone marrow is susceptible too,” said Dr. Theodore Friedmann, professor of pediatrics at UC San Diego. “The answer is yes.”

Friedmann is director of the San Diego research team studying Lesch-Nyhan disease. The team’s report appears in the Nov. 9 edition of Science, the journal of the American Assn. for Advancement of Science.

In 1982, Friedmann’s laboratory isolated the gene for the enzyme--hypoxanthine guanine phosphoribosyl transferase--missing in Lesch-Nyhan victims.

There is no known cure or treatment for the genetic disorder, which is believed to afflict several hundred people, mainly children.

Series of Studies

“This was a natural outgrowth of a long series of studies that our lab and others have been doing,” Friedmann said of the successful introduction of the gene into human bone marrow.

Friedmann said he is cautious about overstating the advance and said more work must be done before he applies to the federal government for permission to conduct human studies. For example, he said the efficiency of the enzyme production must be measured.

It also remains unclear whether this type of therapy will correct brain or behavior disorders. An earlier study this year involving a direct bone marrow transplant into a Lesch-Nyhan patient from a normal donor apparently was unsuccessful, although scientists say it may be too early to know for certain.