Novel ENU-Induced Point Mutation in Scavenger Receptor Class B, Member 1, Results in Liver Specific Loss of SCARB1 Protein

Authors: Ioannis M. Stylianou, Karen L. Svenson, Sara K. VanOrman, Yanina Langle, John S. Millar, Beverly Paigen, Daniel J. Rader

DOI: 10.1371/journal.pone.0006521

Abstract Summary

Researchers identified a novel mutation in the SCARB1 gene that dramatically reduces the receptor protein in liver (~90%) but not in other tissues, leading to 70% higher HDL cholesterol levels. This tissue-specific effect occurs through a mechanism independent of known regulators, offering new insights into HDL metabolism that could advance therapies for cardiovascular disease prevention.

Why Brain? 🧠

A new mouse mutation reveals tissue-specific regulation of SCARB1, a key HDL receptor. Understanding this mechanism could help develop therapies to raise beneficial HDL cholesterol levels.

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