A systems neurobiology approach in a model organism to understand the role of the cerebellum in autism.
University of Tennessee
Basic & Clinical
In recent years researchers have found a connection between autism and damage to cells in an area of the brain called the cerebellum. In particular, a loss of a kind of nerve cell called Purkinje cells appears to disrupt connections between the cerebellum and the prefrontal cortex, which controls higher brain functions such as learning and cognitive processing. Dr. Goldowitz and his team have theorized that this disruption may be one key to how autism spectrum disorders develop. They have conducted a long program of research to examine the role of Purkinje cell loss in autism using a mouse with a gene mutation called Lurcher which causes mice to loose all of their Purkinje cells in the first two to three weeks of life. The researchers have also created a unique type of mouse in which individual mice loose variable numbers of Purkinje cells and show signs of behaviors similar to those of people with autism. Through funding from NIH, Dr. Goldowitz and his colleagues have begun a program to compare the molecular and anatomical differences between the development of normal and mutant mice. This funding will allow Dr. Goldowitz and his team to expand their research to include a behavioral assessment of their theory. They will test their mice on an operant task that will measure how well the mice learn rules and process information. They will then determine the relationship between the absolute number of Purkinje cells a mouse has and any cognitive learning deficits detected through these tests. What this means for people with autism:This study uses cutting edge technology in the form of a genetically modified mouse to discover how loss of Purkinje cells in the cerebellum during development may be responsible for cognitive and learning impairments in autism. This work will not only help researchers better understand how autism develops in people, but the mouse model may provide a tool for testing intervention strategies for treating autism.