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.