THURSDAY, Oct. 14 (HealthDay News) -- ANGPTL3 mutations appear to be associated with extremely low plasma low-density lipoprotein (LDL) cholesterol levels among individuals with familial combined hypolipidemia, which may represent a new target for the lowering of LDL cholesterol levels, according to a brief report published online Oct. 13 in The New England Journal of Medicine.
Kiran Musunuru, M.D., Ph.D., M.P.H., of Massachusetts General Hospital in Boston, and colleagues sequenced all protein-coding regions of the genome in two family members with combined hypolipidemia, marked by low plasma levels of LDL and HDL cholesterol and triglycerides.
The investigators found that the two family members were compound heterozygotes for two distinct nonsense mutations in ANGPTL3, which encodes for the angiopoietin-like 3 protein and has been shown to play a role in increasing plasma triglyceride and HDL cholesterol levels. The investigators concluded that identifying ANGPTL3 mutations in these patients highlights the role of the gene in LDL cholesterol metabolism in humans.
"In conclusion, we found that nonsense mutations in ANGPTL3 resulted in decreased plasma LDL cholesterol levels and, in persons harboring two nonsense alleles, a phenotype of familial combined hypolipidemia," the authors write.
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