Just two years ago, the origins of the fatal childhood neurological disorders called Batten disease were shrouded in mystery, and there were few prospects for effective treatment. Now, for the first time, researchers can describe the genetic underpinnings of all major childhood forms of the disease.
The discovery of the gene and protein responsible for most cases of late infantile Batten disease is reported in the September 19, 1997, issue of Science(1). The finding allows the first reliable diagnosis and carrier testing for the disease and is the first step toward developing an effective treatment. Ultimately, the finding also may yield new insights into the aging process. The work was supported in part by the National Institute of Diabetes and Digestive and Kidney Disorders (NIDDK) and the National Institute of Neurological Disorders and Stroke (NINDS).
A research team led by Peter Lobel, Ph.D., and David E. Sleat, Ph.D., of the Center for Advanced Biotechnology and Medicine in Piscataway, New Jersey, located the gene using a newly developed biochemical approach to identify the enzyme missing in the disease. The center is a joint program of the University of Medicine and Dentistry of New Jersey (UMDNJ) and Rutgers University. The scientists then compared this enzyme to known proteins and gene segments that are described in databases available through the National Center for Biotechnology Information at the National Library of Medicine. This allowed them to determine the enzyme?s probable function.
The newly discovered gene, CLN2, codes for a type of enzyme that has never
before been described in humans or other mammals. Nonetheless, it appears to be
one of the most common protein-degrading enzymes (proteases) in the brain, says
Raju K. Pullarkat, Ph.D., of the New York State Institute for Basic Research in
Developmental Disabilities in Staten Island. The protein also is normally
produced in the heart, lung, kidney, and many other organs
Contact: Natalie Larsen, NINDS or Jane DeMouy, NIDDK
NIH/National Institute of Neurological Disorders and Stroke