Cholesterol plays a key role in many cellular processes, and is generated by cells through de novo biosynthesis or acquired from exogenous sources through the uptake of low-density lipoproteins. Cholesterol biosynthesis is a complex, multienzyme-catalyzed pathway involving a series of sequentially acting enzymes. Inherited defects in genes encoding cholesterol biosynthetic enzymes or other regulators of cholesterol homeostasis result in severe metabolic diseases, many of which are rare in the general population and currently without effective therapy. Historically, these diseases have been viewed as discrete disorders, each with its own genetic cause and distinct pathogenic cascades that lead to its specific clinical features. However, studies have recently shown that three of these diseases have an unanticipated mechanistic convergence. This surprising finding is not only shedding light on details of cellular cholesterol homeostasis but also suggesting novel approaches to therapy.

中文翻译：

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胆固醇代谢紊乱及其意外的疾病收敛机制。

胆固醇在许多细胞过程中起着关键作用，它由细胞通过从头生物合成产生或通过摄取低密度脂蛋白从外源获得。胆固醇生物合成是一种复杂的多酶催化途径，涉及一系列顺序作用的酶。编码胆固醇生物合成酶或其他胆固醇稳态调节剂的基因的遗传缺陷导致严重的代谢疾病，其中许多在普通人群中很少见，目前没有有效的治疗方法。从历史上看，这些疾病被视为离散的疾病，每种疾病都有自己的遗传原因和导致其特定临床特征的不同致病级联反应。然而，最近的研究表明，其中三种疾病具有意想不到的机制收敛。