Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia.
Yasuhisa FurutaYoshinori OsakiYoshimi NakagawaSong-Iee HanMasaya ArakiAkito ShikamaNami OhuchiDaichi YamazakiErika MatsudaSeitaro NoharaYuhei MizunoeKenta KainohYasuhito SueharaHiroshi OhnoYoshinori TakeuchiTakafumi MiyamotoYuki MurayamaYoko SuganoHitoshi IwasakiKen-Ichi HiranoMasahiro KosekiShogo NakanoHiroaki TokiwaMotohiro SekiyaNaoya YahagiTakashi MatsuzakaKiyotaka NakamagoeYasushi TomidokoroJun MitsuiShoji TsujiHiroaki SuzukiHitoshi ShimanoPublished in: Journal of atherosclerosis and thrombosis (2024)
Case 1 is a new ABCA1 mutation with complex pathogenicity, namely, a W484*/S1343I compound heterozygote with marked hypo-HDL cholesterolemia. Analyses of the compound heterozygous mutations indicated that decreases in ABCA1 protein levels and cholesterol efflux activity caused by the novel S1343I mutation combined with loss of W484* protein activity could lead to marked hypo-HDL cholesterolemia. Galactocerebrosidase dysfunction could also be a potential confounding factor for ABCA1 protein function.