Office: SG Mudd 103
Office Phone: (303) 871-5650
1971 Ph.D., Microbiology - Brandeis University - Waltham, Massachusetts
1966 B.S., Biology - Massachusetts Institute of Technology - Massachusetts
The Patterson laboratory works on three interrelated projects. We are interested in the cognitive and behavioral disabilities faced by persons with Down syndrome and in developing ways to ameliorate these disabilities. The most common genetic cause of significant cognitive disability in the human population, Down syndrome is caused by trisomy of chromosome 21, the smallest human chromosome. A mouse model of Down syndrome exists which is trisomic for a mouse chromosome that is highly homologous to a large portion of human chromosome 21. These mice have many cognitive disabilities reminiscent of those seen in persons with Down syndrome, including the development of an Alzheimer's disease-like cognitive loss as they age. We are analyzing these mice for alterations in crucial metabolic pathways involved in energy metabolism. We are also using proteomics approaches to determine which proteins are expressed in altered levels in these mice to gain insight into how Down syndrome leads to cognitive disabilities.
In a second project, we are attempting to produce a mouse model of autism. This is based on the observation that mutations in a gene encoding an essential enzyme of purine synthesis lead to developmental delay occasionally accompanied by autistic features. Recently, a mutation in this gene has been reported in which the primary clinical finding is autistic features. We will introduce these mutations into the mouse genome and analyze the resulting mice for autistic features and for the biochemical abnormality that is always part of the syndrome in humans. We have undertaken a detailed biochemical and biophysical analysis of the protein encoded by this gene as part of these studies.
The Patterson laboratory's third project is a somatic cell genetic analysis of purine synthesis. Purines are some of the most important biological molecules, since they are components of DNA and RNA. They are crucial for cellular energy metabolism, and they function as intracellular second messenger molecules and as neurotransmitters. We are analyzing transgenic mice in which human genes for purine synthesis have been introduced. We also are analyzing the effects of mutations in these genes in Chinese hamster ovary cells. The analysis of purine metabolism is a common link to all projects, since purine metabolism is altered in Down syndrome and in the form of autism we are studying. Alterations in purine synthesis and metabolism also are important for many additional human genetic diseases including cancer.
Link to Patterson's publications through PubMed