Roanoke Times
Copyright (c) 1995, Landmark Communications, Inc.
DATE: THURSDAY, March 4, 1993 TAG: 9303040053
SECTION: NATIONAL/INTERNATIONAL PAGE: A-4 EDITION: METRO
SOURCE: Knight-Ridder/Tribune
DATELINE: LENGTH: Medium
GEHRIG'S DISEASE GENE IDENTIFIED
After 122 years of hopelessness, medical science finally has made a breakthrough in one of the most calamitous of human diseases: amyotrophic lateral sclerosis, or Lou Gehrig's disease.Researchers at Northwestern University and at Harvard University's Massachusetts General Hospital on Wednesday announced the discovery of a gene believed responsible for the inherited form of ALS, the paralyzing neuromuscular disorder that killed the legendary New York Yankee baseball slugger in 1941.
"This is no cure . . . but it brings hope where before there was no hope," said the gene's co-discoverer, Northwestern Medical School neurologist and ALS specialist Dr. Teepu Siddique.
In Boston, Siddique's collaborator, Dr. Robert H. Brown Jr., director of the Day Neuromuscular Research Laboratory, called the discovery "enormously exciting. We've been trying to find the cause of this disease for over 13 years."
Siddique predicted the advance, resulting from an unusual international partnership - 32 physician-scientists at 13 institutions using DNA from hundreds of ALS families - will lead to a revolution in the treatment of neurological disorders.
"And we're talking months, not years," he said, although he cautioned that other genes also are involved.
The immediate benefit will be genetic tests for families at risk of developing ALS and perhaps the prevention of symptoms by early intervention.
If the gene proves to be the key to the secrets of ALS - a disorder so terrifying that its mere diagnosis has led victims to commit suicide - the possibility of the first therapy becomes feasible.
The ALS researchers, with Brown as senior author, report in this week's edition of the British journal Nature that in many patients the mutant gene, named SOD-1, produces a defective version of an enzyme called superoxide dismutase.
An enzyme present in all tissues and one of the body's most powerful defense mechanisms, SOD's job is to prevent cellular damage by particles known as free radicals, which are created when the cell breaks down oxygen as it burns energy.
Free radicals, which also are created by the effects of radiation, toxic chemicals and other environmental agents, must be controlled by anti-oxidants such as SOD and vitamins A, C and E, or they can shatter genes and demolish cells.
ALS joins a growing list of brain and nervous system disorders - including Alzheimer's disease, Parkinson's disease, Down syndrome and ischemic brain injury - suspected of being linked to free radicals.
All human movement depends on a kind of large nerve cell called a motor neuron. Massed motor neurons form embedded cables up and down the spinal cord. In ALS, the motor neurons wither and harden, or sclerose. As a result, muscle fibers atrophy - become amyotrophic - and the patient grows increasingly paralyzed.