A multidisciplinary team of veterinarians and scientists at the Oregon National Primate Research Center has identified the first non-human primate model of neuronal ceroid lipofuscinosis, a broad class of rare, fatal and inherited disorders of the nervous system known as Batten disease.
Read the full OHSU News article about the discovery. Combined with new advancements in gene therapy techniques, the finding could possibly lead to clinical trials for new gene therapies for Batten disease within the next five years.
An estimated 2 to 4 of every 100,000 children in the U.S. are afflicted with Batten disease, which affects the function of organelles within cells called lysosomes. These lysosomes normally break down waste products much like a cellular garbage disposal. But when the CLN7 gene is mutated, lysosomes produce a broken form of a protein involved in waste disposal. This causes a buildup of “junk” material in lysosomes, which eventually leads cells to become sick and degenerate.
The team that made the discovery confirmed through genetic analysis that a small population of Japanese macaque monkeys carry a mutation in the CLN7 gene that causes one form of the disease.
This is the only known model for the disease among non-human primates in the world. These animals will be invaluable for evaluating promising therapeutic strategies for Batten disease.
The research was funded by NIH grants P51OD011092 and NS10416.