Cellular Neuroscience, Neurodegeneration, Repair, Departments of Neurology and of Neuroscience, Yale University School of Medicine, New Haven, CT, 06536, USA.
Biomedical Research Institute of New Jersey (BRInj), Cedar Knolls, NJ, 07927, USA.
Commun Biol. 2024 Sep 5;7(1):1088. doi: 10.1038/s42003-024-06810-5.
TMEM106B is an endolysosomal transmembrane protein not only associated with multiple neurological disorders including frontotemporal dementia, Alzheimer's disease, and hypomyelinating leukodystrophy but also potentially involved in COVID-19. Additionally, recent studies have identified amyloid fibrils of C-terminal TMEM106B in both aged healthy and neurodegenerative brains. However, so far little is known about physiological functions of TMEM106B in the endolysosome and how TMEM106B is involved in a wide range of human conditions at molecular levels. Here, we performed lipidomic analysis of the brain of TMEM106B-deficient mice. We found that TMEM106B deficiency significantly decreases levels of two major classes of myelin lipids, galactosylceramide and its sulfated derivative sulfatide. Subsequent co-immunoprecipitation assay showed that TMEM106B physically interacts with galactosylceramidase. We also found that galactosylceramidase activity was significantly increased in TMEM106B-deficient brains. Thus, our results suggest that TMEM106B interacts with galactosylceramidase to regulate myelin lipid metabolism and have implications for TMEM106B-associated diseases.
TMEM106B 是一种内溶酶体跨膜蛋白,不仅与多种神经退行性疾病有关,包括额颞叶痴呆、阿尔茨海默病和脱髓鞘性白质脑病,还可能与 COVID-19 有关。此外,最近的研究在年龄健康和神经退行性大脑中均发现了 C 端 TMEM106B 的淀粉样纤维。然而,目前对于 TMEM106B 在溶酶体中的生理功能以及 TMEM106B 如何在分子水平上参与广泛的人类疾病知之甚少。在这里,我们对 TMEM106B 缺陷小鼠的大脑进行了脂质组学分析。我们发现,TMEM106B 缺陷显著降低了两种主要的髓鞘脂质,半乳糖脑苷脂及其硫酸化衍生物硫酸脑苷脂的水平。随后的共免疫沉淀实验表明,TMEM106B 与半乳糖脑苷脂酶物理相互作用。我们还发现 TMEM106B 缺陷小鼠大脑中的半乳糖脑苷脂酶活性显著增加。因此,我们的结果表明,TMEM106B 与半乳糖脑苷脂酶相互作用,以调节髓鞘脂质代谢,并对 TMEM106B 相关疾病有影响。