Talk

The News section of today’s JAMA reports on exciting new research that may lead to more effective treatment of Gaucher disease. (How odd that I just posted on this rarely discussed condition yesterday.)

Researchers have discovered new details about the protein that is mutated in Gaucher disease. This protein, an enzyme called acid beta-glucosidase, is needed for the body’s cells to stay healthy. People with Gaucher disease produce an inactive form of the enzyme and as a result, cannot process a particular lipid. This results in liver dysfunction and the other symptoms of Gaucher disease.

This new research has uncovered a small molecule, called isofagomine, that can bind to the enzyme, changing its shape into that of an active enzyme.

Technorati Tags: gaucher disease, research, treatment, causes, ashkenazi jewish, genetics

This entry was posted on Wednesday, February 7th, 2007 at 1:57 pm and is filed under Ashkenazi Jewish Diseases. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.