Years of Research

Years of Research of the “Deater Disease” Continue
Submitted By: Ellen Deater Burns, Medical Liaison

Early in my life my father’s (Harvey Deater) illness was known simply as “the Deater Disease.” I then discovered the designation “Hereditary sensory radicular neuropathy.” This gave way to hereditary sensory neuropathy type 1 (HSN-1), and more recently, hereditary sensory and autonomic neuropathy type 1 (HSAN- 1). Even now, there is controversy that the disease might best be labeled “hereditary sensory and motor neuropathy.” As far as we know, Thomas and Henrietta Anthony Deater, my great grandparents, are the founding generation for the disease in the Deater family. People in generation 3 through generation 7 in the Deater family are alive today who have, or are at risk for, the disease.

The Deater family has been engaged in studies over the course of more than 70 years, during which many potential causes of HSAN-1 have been theorized and ruled out. The research by the Day Laboratory involving many Deater family members confirmed the identification of the mutation on Chromosome 9 that is the cause of the disease. The defective gene regulates the production of the sphingolipid serine palmitoyltransferase (SPT). This regulation is faulty in persons with HSAN-1.

Sphingolipids are essential components of cells in the body. They give cell membranes important structural properties and may play a part in organizing the movement of proteins in and out of cells. Sphingolipids are formed when a fatty acid bonds with a protein. The resulting product is called a metabolite. These metabolites regulate processes within cells. Sphingolipid metabolites are formed when sphingolipids are created or broken down.

Blood samples from Deater family members with HSAN-1 show high levels of certain sphingolipid metabolites. Studies on the HSAN-1 mouse models at Massachusetts General Hospital show high levels of the same metabolites.

The mice were given a supplement of the protein serine in their diet. After two weeks on this special diet, the blood levels of the metabolites decreased. The researchers want to know if dietary supplements of serine will reduce the levels of the metabolites in people with HSN1.

It is not known if the high levels of metabolites that were discovered in the blood of persons with HSAN-1 have any bearing on the nerve destruction seen in the disease. What is known is that people who have the disease have high levels of metabolites, and those without the disease in the same family do not. If the supplements reduce the levels of metabolites in humans, as they do in the mice, there is a chance that this might have some kind of bearing on the pathology of the disease.

We are blessed to be able to participate in a study that may lead us closer to a treatment for this disease. We are hopeful that the supplement of a food product may mean that generation 7 may never know the effects of the “Deater Disease.”