HEALTH: New hypercholesterolemia gene found

From: Robert J. Bradbury (bradbury@aeiveos.com)
Date: Wed Jun 26 2002 - 14:09:20 MDT


Scientists at UCSF have identified another gene (CYP7A1),
whose product "cholesterol 7-alpha hydroxylase" is
essential for the elimination of cholesterol, in which
mutations can cause elevated levels of cholesterol and
triglycerides.

See:
New Cholesterol Disorder Discovered As Predicted From Gene's Role
http://www.sciencedaily.com/releases/2002/06/020626070521.htm

The last significant discovery in the regulation of cholesterol
metabolism (involving the Low Density Lipoprotein Receptor)
resulted in a Nobel Prize for Michael S. Brown and
Joseph L. Goldstein.
http://www.nobel.se/medicine/laureates/1985/

Augmenting defects in the Low Density Lipoprotein receptor
gene is an active area of research for gene therapies:
http://www.americanscientist.org/articles/99articles/kmiecrepair.html

The augmentation of CYP7A1 gene defects would seem to be
another clear candidate.

Robert



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