October 13th, 2010
Sequencing Study Identifies Gene Mutations Tied to Hypolipidemia
Larry Husten, PHD
By sequencing all protein-coding regions of the genome in two people with combined hypolipidemia, researchers have identified a gene that may lead to a new method to lower LDL cholesterol. The report by Kiran Musunuru and colleagues, published in the New England Journal of Medicine, has its origins in a study started in 1994 of a family with hypobetalipoproteinemia not caused by an APOB variant. Whole-exome sequencing in two siblings from the family identified two independent nonsense mutations of ANGPTL3, which “normally acts to increase plasma levels of triglycerides, LDL cholesterol, and HDL cholesterol,” the authors write.
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