Unuiversity scientists involved in study of similar disease
By Zack Van Eyck
Deseret News staff writer
University of Utah scientists have made a discovery about a rare neurodegenerative disease that could help reveal the cause of similar diseases, including multiple sclerosis.
Ying-Hui Fu and Louis Ptacek, researchers at the university's Eccles Institute of Human Genetics, have localized the gene causing adult-onset autosomal dominant leukodystrophy (ADLD) to chromosome 5.
Both ADLD and MS result from the degeneration of a nerve-cell insulator, but what causes that breakdown is not known. ADLD is much less common than MS, but Fu and Ptacek hope their findings and further research will assist efforts to find the cause of MS and combat the disease.
"We are very close to finding the gene" where ADLD originates, said Fu, lead author of the study. "I'm sure what we learn, in the long term, will have some impact on MS disease."
Findings of the ongoing study will appear in the March 22 issue of the journal Human Molecular Genetics.
The study has involved four years of research, principally with a 100-member extended family located along the East Coast.
MS currently affects nearly 400,000 Americans, Ptacek said, while ADLD appears in fewer than one in a million people.
Researchers believe the gene that causes ADLD probably is involved with the production of myelin, a sheath consisting of lipids and proteins that works as an insulator for nerve cells.
Myelin degeneration is also involved in MS. But Fu and Ptacek stressed that even if they can find the gene that causes ADLD, that does not mean the same gene is responsible for MS.
"It's an important distinction that this is not MS. We want to emphasize that. We don't mean to get their hopes up for something that is different than MS," Ptacek said of MS sufferers and their families.
"But we are very excited about ADLD because we think it may provide some clues about myelin and how it works on this disease, which might have some impact" on how it works in MS.
Ptacek said when myelin is improperly produced or installed on nerve cells, it slows the rate at which the nerve signals travel between the brain and the rest of the body. When that happens, muscle coordination and other neurological functions, including vision, are impaired.
Both MS and ADLD cause gradual loss of movement and shorter life expectancy. ADLD is unique because patients experience unusual symptoms fairly early in the disease's progression.
But patients with ADLD are often misdiagnosed with MS. That happened to 20 of the people in the university scientists' study group.
Researchers at the U. School of Medicine, Albany Medical College, Neurology
of Arkansas, Johns Hopkins University and the University of Louisville
contributed to the study.