The following is an excerpt from the Worcester Telegram and Gazette - Monday, March 2, 2009
By Steven H. Foskett Jr. TELEGRAM & GAZETTE STAFF
sfoskett@telegram.com
— Researchers at UMass Medical School have discovered a new gene whose mutations could open up new avenues in the search for more promising therapies to fight amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig’s disease, the school has announced.
The discovery, documented in the issue of Science released late last week, was made by a team of researchers led by Dr. Robert H. Brown, chairman of neurology at the medical school.
“We know that when this gene makes a mutant protein, it kills nerve cells,” Dr. Brown said. “If we could stop it from making the protein, it could save the nerve cells.” The newly discovered gene is only the fourth to be linked to familial ALS, an inherited form of the disease that accounts for around 10 percent of all ALS cases. Dr. Brown, who came to UMass in October, also was the leader of a team in 1993 that discovered the first gene linked to familial ALS.
Dr. Brown said the research started with the discovery of the gene mutation among members of a family from the Cape Verde islands. Once the gene was discovered in the Cape Verdean family, it was implicated in other families elsewhere, Dr. Brown said. He said the process was akin to police finding a gun used in a murder, but not knowing who the killer was. The discovery of the new gene and its mutations is like police being able to link the murder weapon to an individual, he said.
The doctor said the discovery opens up new pathways of research. He said the gene can now be introduced into laboratory mice, and can be used in cell-based drug screening. While the gene discovered only accounts for 5 percent to 6 percent of the 10 percent of familial ALS cases, it could give researchers clues related to the biology of the disease.
“It can build up a picture of how the disease evolves,” Dr. Brown said.
Dr. Brown said the gene discovery is a breakthrough, but said problems still exist in the search for a cure for ALS. For example, there are practical challenges in technical delivery that may make it difficult to introduce therapies to humans that were effective with mice. But he said the discovery of the new gene is a step in the right direction.
“I’m a clinician,” Dr. Brown said. “I see patients. In part for that reason and for others, I’d like to accelerate treatment and discovery.”
