Sphingolipids Research
Submitted By: Ellen Burns, Medical Liaison
Each cell in the human body contains all the information needed to make a whole person. This information is stored in the nucleus of the cell in DNA. Each person inherits half his DNA from his mother and half from his father. There are millions of ways the combinations of DNA can be put together, making each person unique. The DNA is arranged into chromosomes, and organized on the chromosomes into genes. Genes make proteins, and proteins make enzymes.
Genes control how the body looks and functions. When the essential components of the gene are out of order or missing, the gene is mutated (changed). Then, the half of the gene that comes from the affected parent produces “bad” protein that isn’t recognized, and isn’t working. The gene that comes from the parent who doesn’t have the disease produces “good” protein. Usually this is not a problem, because we usually make much more of the protein than we need.
In HSN-1, the gene SPTLC1 encodes (tells the cells to make) one part (long chain base one) of the serine palmitoyltransferase enzyme (SPT). This enzyme is expressed (produced) in every cell in the body. Cells in people with HSN-1 show a decrease in SPT activity. This enzyme is known to affect the production of a fatty substance (glycosyl ceramide) in the body. This substance belongs to a class of fats known as sphingolipids.
Sphingolipids are a type of lipid found in cell membranes, particularly nerve cells and brain tissues. Sphingolipids are important in cell structure, cell-to-cell communication, and signal transduction. The lipid backbones of the structure of sphingolipids regulate diverse cell behaviors, including cell death.
Many scientists are interested in how sphingolipids act in the body. At least one researcher, Alfred Merrill, Jr., Professor and Smithgall Chair in Molecular Cell Biology at Georgia Institute of Technology, believes that dietary sources of sphingolipids may help in the treatment or prevention of disease. Dr. Merrill’s research involves colon cancer, but he suggests that it would be interesting to see if eating a diet of foods high in sphingolipids had any bearing on the disease HSN-1. Milk and soy products are two categories of food high in sphingolipids.
It would be interesting to know if any family members with the disease have had, over the years, a diet high in those two foods. Some people with HSN-1 are beginning to supplement with these products to see if diet can make a difference. If you have any thoughts about this, please contact Ellen Burns and/or share your thoughts with other family members on the Deater Foundation website.