VIDEO: OSBPL1A mutation: Role in dyslipidemias

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Dear Colleague,

My name is Philippe Moulin, I am from Lyon, I am professor of nutrition and I am head of a Department of Endocrinology, in charge of a lipid clinic.

I have been asked to draw your attention on a selection of papers from the June issue of the atherosclerosis journal: The first paper I wish to highlight this month is “A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.” The first author is Mahdi M. Motazacker. This work was conducted both at the Academic Medical Center (AMC), Amsterdam, The Netherlands and the University Of Helsinki, Finland.

Among 40 subjects with very low hypoalphalipoproteinemia (lower that the 1st percentile), the authors identified a heterozygous variant OSBPL1A encoding a short truncated protein fragment that co-segregated with low plasma HDL-C. The other analyzed plasma components or HDL parameters did not differ in carriers and non-carriers except CETP activity which was found to be reduced by 30%.

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