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Molecular analysis of genes related to pathogenesis and pathophysiology of cardiovascular disease

The first case of ARH (Autosomal recessive hypercholesterolemia) was analyzed and reported as having huge xanthomas and premature atherosclerosis like homozygous FH without any mutation in LDLR gene. Mutation in LDLRAP1, the adaptor protein of LDLR, was reported to show the symptom of FH. We have made a mouse that lacks LDLRAP1 and analyzed the phenotype. Mice that lack LDLRAP1 showed retardation of LDL metabolism in vivo, however their primary cultured hepatocytes showed normal function of LDL receptor. The functional analysis of LDLRAP1 is going on in our laboratory.

We also reported that a novel peptide, Neuromedin U (NMU), is involved in lipid metabolism and atherogenesis.


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