The purpose of the Deater Foundation is to provide funding for medical research on the disease Hereditary Sensory and Autonomic Neuropathy Type1 to discover a treatment or cure.
Hereditary Sensory and Autonomic Neuropathy Type1 (HSAN1) is an autosomal dominant disease caused by an error in the genetic code (the DNA). Autosomal DNA describes DNA which is inherited from any of the numbered chromosomes. Humans have 22 pairs of autosomes and one pair of sex chromosomes. In an autosomal dominant disease, only one of the parents must have the deviant chromosome for the disease to be passed on to the offspring. The child could inherit the “good” chromosome from the affected parent and the “good” chromosome from the unaffected parent and be well, or could inherit the deviant, or “bad” chromosome from the affected parent and the “good” chromosome from the unaffected parent. Each child has a 50/50 chance of inheriting the deviant chromosome.
Researchers have found at least four genes responsible for hereditary sensory neuropathy type 1 (HSAN1). The research that is currently being supported by the Deater Foundation is centered on the mutation in the SPTLC1 gene. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme, serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes that play a role in many cell functions.