Disease Research Report
Submitted by: Ellen Burns, Medical Liaison
Paper Presentation: Mouse Model for Hereditary Sensory Neuropathy Type I
Alex McCampbell, working in the Day Laboratory for Neuromuscular Research, presented a paper on hereditary sensory neuropathy in late 2004 at the Society for Neuroscience. Alex has been working for several years with Dr. Bob Brown, Jr., who is the Director of the Day Lab. Alex has been working to develop a strain of mice who demonstrate the defective gene found in the human form of HSN-1. Once referred to as the “Deater Disease,” HSN-1 is now known to be the most common hereditary disorder primarily affecting peripheral sensory neurons.
The gene with the mutations associated with HSN-1 is identified as SPTLC1. Genes make proteins; proteins make enzymes. SPTLC1 encodes one subunit of the serine palmitoyltransferase enzyme (SPT). This enzyme is known to affect the production of a fatty substance (glycosyl ceramide) in the body. Alex altered the genetic makeup of mice in several ways. He created transgenic mice. One group of mice have the mutated gene that is associated with HSN-1 added. The other group of mice was altered to over express the normal gene. The two groups were created