Gene Could Cause Rare, Fatal Epilepsy
Lafora disease may have its roots in a specific mutation
FRIDAY, May 27, 2005 (HealthDay News) -- In what could be an important discovery, scientists say mutations in a gene regulating the protein laforin can cause Lafora disease, a severe, inherited form of epilepsy that results in death by age 30.
Normally, another protein, malin, physically interacts with laforin and regulates laforin's concentration by marking it for degradation.
But a team at the University of California, San Diego, found that about 40 percent of people with Lafora disease have mutations in malin that impair its ability to mark laforin in this way.
The result is an increase in laforin levels that may lead to Lafora disease, the researchers said.
People with Lafora disease develop normally during the first 10 years of life. They typically suffer an initial seizure in the second decade of life, followed by worsening seizures, early dementia and death within 10 years of the start of symptoms.
While medications can reduce the severity of initial symptoms, there is no long-term treatment or cure for Lafora disease.
This study establishes a few testable models as to the molecular mechanism of the disease. These models may help in the development of potential treatments for Lafora disease.
The findings appear in this week's issue of the Proceedings of the National Academy of Sciences.
The U.S. National Institute of Neurological Disorders and Stroke has more about epilepsy.