An international cadre of experts gathered in April in Boston to discuss the chemistry, biology, genetics, neuropathy, treatment, and potential for cure for HSAN1.They were joined by post-doctoral fellows, doctors, researchers, and 5 members of the Deater family. The welcome dinner provided time to fellowship and talk about funding issues and possibilities, as well as to remember Larry Deater and his dedication to this ongoing research.
Dominic Campopiano- Edenborough Scotland- discussed the basic chemistry of the biosynthesis of the enzyme serine palmitoyltransferase (SPT). The SPTLC1 gene provides instructions for making one part (subunit) of the SPT enzyme. The mutation of the gene interferes with the mechanism of the enzyme SPT. A question that remains is, “how is SPT regulated by the cell?”
Tere sa Dunn-Giroux- Bethesda Maryland- is focused on identifying and characterizing the enzymes responsible for sphingolipid synthesis, on determining how sphingolipid synthesis is regulated, and on clarifying the functions of these important lipids through a genetic and biochemical approach. The enzyme is more complex than previously thought.
Thorsten Hornemann- Zurich Switzerland- discussed the role of sphingolipids in the body. They play a major role in the neurological system- brain and nerves. We know that the blood levels of deoxysphingolipids is increased in HSAN1 because of the increased activity of the cells with alanine vs.