Mutations in LMF1 cause combined lipase deficiency, severe hypertriglyceridemia

Roberts, Robert
November 2008
Cardiology Today;Nov2008, Vol. 11 Issue 11, p8
The article reports that the article in "Nature Genetics," by Péterfy et al, identifies that mutations in lipase maturation factor 1 (LMF1) cause lipase deficiency and severe hypertriglyceridemia, which is associated with lipoprotein and hepatic lipase deficiency. LMF1, a membrane in the endoplasmic reticulum, is said to be essential for the proper maturation of the endoplasmic reticulum. In humans, it states that LMF1 synthesize and assemble the endoplasmic lipases which results in deficient lipase activity in individuals with the mutation.


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