Effect of the amyloidogenic L75P apolipoprotein A-I variant on HDL subpopulations.

ABSTRACT:

Background

Hereditary amyloidosis due to mutations of apolipoprotein A-I (apoA-I) is a rare disease characterized by the deposition of amyloid fibrils constituted by the N-terminal fragment of apoA-I in several organs. L75P is a variant of apoA-I associated with systemic amyloidosis predominantly involving the liver, kidneys, and testis, identified in a large number of unrelated subjects. Objective of the present paper was to evaluate the impact of the L75P apoA-I variant on HDL subpopulations and cholesterol esterification in carriers.

Methods and results

Plasma samples were collected from 30 carriers of the amyloidogenic L75P apoA-I (Carriers) and from 15 non affected relatives (Controls). Carriers displayed significantly reduced plasma levels of HDL-cholesterol, apoA-I, a

SUBMITTER: Gomaraschi M 

PROVIDER: S-EPMC3096778 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature