Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia

CONCLUSION: 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.PMID:38538338 | DOI:10.5551/jat.64579

Source: Journal of Atherosclerosis and Thrombosis - March 27, 2024 Category: Cardiology Authors: Yasuhisa Furuta Yoshinori Osaki Yoshimi Nakagawa Song-Iee Han Masaya Araki Akito Shikama Nami Ohuchi Daichi Yamazaki Erika Matsuda Seitaro Nohara Yuhei Mizunoe Kenta Kainoh Yasuhito Suehara Hiroshi Ohno Yoshinori Takeuchi Takafumi Miyamoto Yuki Murayama Y Source Type: research