Rare Gene Mutation Keeps Cholesterol Low

NEW YORK TIMES
Rare Mutation Ignites Race for Cholesterol Drug 
By GINA KOLATA
Published: July 9, 2013

Christopher Capozziello for The New York Times

LARGE SCALE Amgen is preparing three sites, including a 75-acre plant in Rhode Island, to make a cholesterol drug if production is approved.

She was a 32-year-old aerobics instructor from a Dallas suburb — healthy, college educated, with two young children. Nothing out of the ordinary, except one thing. Her cholesterol was astoundingly low. Her low-density lipoprotein, or LDL, the form that promotes heart disease, was 14, a level unheard-of in healthy adults whose normal level is over 100.

The reason was a rare gene mutation she had inherited from both her mother and her father. Only one other person, a young, healthy Zimbabwean woman whose LDL cholesterol was 15, has ever been found with the same double dose of the mutation.

The discovery of the mutation and of the two women with their dazzlingly low LDL levels has set off one of the greatest medical chases ever. It is a fevered race among three pharmaceutical companies, Amgen, Pfizer and Sanofi, to test and win approval for a drug that mimics the effects of the mutation, drives LDL levels to new lows and prevents heart attacks. All three companies have drugs in clinical trials and report that their results, so far, are exciting.
MORE AT: http://www.nytimes.com/2013/07/10/health/rare-mutation-prompts-race-for-cholesterol-drug.html?nl=todaysheadlines&emc=edit_th_20130710&_r=0