A paper recently published in Brain indicates that muscle cholesterol transport is dysregulated in amyotrophic lateral sclerosis (ALS). In skeletal muscle tissue biopsies from patients with ALS, the researchers found evidence of lysosomal cholesterol accumulation, which increased with disease severity and was associated with overexpression of the lysosomal cholesterol transporter genes NPC1 and NPC2. NPC2 mRNA levels were also increased in muscle samples from presymptomatic carriers of ALS-related mutations, suggesting that cholesterol transport dysregulation occurs early in the disease course and could represent a novel therapeutic target.

最近发表在《大脑》上的一篇论文表明，肌萎缩侧索硬化症 （ALS） 的肌肉胆固醇转运失调。在 ALS 患者的骨骼肌组织活检中，研究人员发现了溶酶体胆固醇积累的证据，溶酶体胆固醇积累随着疾病的严重程度而增加，并且与溶酶体胆固醇转运蛋白基因 NPC1 和 NPC2 的过表达有关。来自 ALS 相关突变的症状前携带者的肌肉样本中的 NPC2 mRNA 水平也升高，表明胆固醇转运失调发生在病程早期，可能代表一种新的治疗靶点。