A Fatal Excess

 

The accumulation of too many lipids in a cell leads to a number of hereditary diseases that in particular afflict Ashkenazic Jews: Tay-Sachs, Gaucher's, and Niemann-Pick disease, for instance.

Lipids are fatty substances essential for life. They make up the membranes that separate the cell from its surroundings and, as such, they are responsible for regulating the passage of nutrients to and from the cell. However, the accumulation of too many lipids in the cell leads to a number of hereditary diseases that in particular afflict Ashkenazic Jews: Tay-Sachs, Gaucher's, and Niemann-Pick disease, to name but a few. These diseases can affect infants and children, and in some cases lead to severe neurological problems and death at a very early age. Prof. Anthony (Tony) Futerman of the Weizmann Institute's Biological Chemistry Department examines the various processes that lead to the accumulation of lipids characteristic of these diseases.

It appears that lipids, like other substances in the body, operate efficiently for only a limited time. After a while, the body produces new lipids, while the "veteran" lipids are digested by special enzymes. Futerman discovered a number of sites in the cell where new lipids are produced. In addition, he examined what happens in brain nerve cells when the digesting enzymes do not operate properly, leading to an accumulation of lipids in the nerve cells. He proved that under these conditions, nerve cells become particularly sensitive to factors that activate the "self-destruction program" found in all of the body's cells. No one understands the precise connection between lipid accumulation and the activation of this program, but his findings may help to explain nerve cell death in those who suffer from these diseases. The unique laboratory model designed by Futerman enables him to follow the different stages of development in these hereditary diseases, which may prove useful in resolving this mystery.
 

Dr. Futerman's research is supported by the Y. Leon Benoziyo Institute for Molecular Medicine; the Buddy Taub Foundation, Los Angeles,CA; the Ebner Family Biomedical Research Foundation, Israel; and the Morton Levine Fund, Delray Beach, FL.