OHSU Found Naturally Occurring Disorder in Monkeys That Could Lead to Batten Disease Treatment
A new breakthrough in the search of treatment of childhood disease Batten Disease.
Science Made Discovery of a Group of Monkeys That Exhibit Naturally Occurring Disease Similar to That Found in Young Children
The discovery at Oregon Health and Science University could lead to an increase in developing a new gene therapy for Batten disease. This disease caused by a gene mutation has a fatal outcome for those children afflicted with it. The study was published in the journal Neurobiology Disease.
A team of veterinarians and scientist at Oregon National Primate Research Center found and confirmed a small population of Japanese macaque monkeys carry a mutation that in humans causes Batten disease. This was the first time the mutation was found in non-human primates all over the world. The title Batten disease is actually an umbrella name of sorts for a large class of rare, fatal and inherited disorders called NCLs.
According to the National Institute of Health it afflicts two to four children of every 100,000 born in the US. Most forms start in early childhood and the child perishes by their teens. The authors of the study have remarked that it affects the entire brain but can focus on the cerebellum causing blindness, seizures, difficulty with motor skills, slow learning, and personality changes. The NIH also has said that depending on when the symptoms begin, shows about how long the child will survive on average.
Batten disease or also known as juvenile neuronal ceroid liposuseinosis, is a recessive inherited neurodegenerative disorder of childhood. It occurs when an accumulation of lipopigments in neurons and other cell types. There are five identified subtypes and are based on factors including age of onset. It affects one in 25,000 births and is eventually fatal. Onset usually begins with vision failure between the ages of five and ten years of age. Seizure activity and mental degeneration ensue with death occurring by the third decade. On autopsy massive neuronal cell death has been found. Now there is hope as scientist have found Japanese macaque monkies that naturally suffer from the same disorder giving them a living non-human subject to conduct research on in hopes of finding a treatment of even a cure.
Finding the deficient gene in a non-human source is a great breakthrough. This can help accelerate the development of new gene therapies for this disorder. OHSU is already considering the next gene therapy as previous test models were done using mice who were made to have the disorder. Finding it occurring naturally in primates is a great boon.
There is hope from the OHSU scientists that in five years or so they will be ready for human trials in order to find a treatment for this horrible disorder.