Cader M Zaeem, Boroviak Katharina, Zhang Qifeng, Assadi Ghazaleh, Kempster Sarah L, Sewell Gavin W, Saveljeva Svetlana, Ashcroft Jonathan W, Clare Simon, Mukhopadhyay Subhankar, Brown Karen P, Tschurtschenthaler Markus, Raine Tim, Doe Brendan, Chilvers Edwin R, Griffin Jules L, Kaneider Nicole C, Floto R Andres, D'Amato Mauro, Bradley Allan, Wakelam Michael J O, Dougan Gordon, Kaser Arthur
Division of Gastroenterology and Hepatology, Department of Medicine, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK.
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Nat Immunol. 2016 Sep;17(9):1046-56. doi: 10.1038/ni.3532. Epub 2016 Aug 1.
Single-nucleotide variations in C13orf31 (LACC1) that encode p.C284R and p.I254V in a protein of unknown function (called 'FAMIN' here) are associated with increased risk for systemic juvenile idiopathic arthritis, leprosy and Crohn's disease. Here we set out to identify the biological mechanism affected by these coding variations. FAMIN formed a complex with fatty acid synthase (FASN) on peroxisomes and promoted flux through de novo lipogenesis to concomitantly drive high levels of fatty-acid oxidation (FAO) and glycolysis and, consequently, ATP regeneration. FAMIN-dependent FAO controlled inflammasome activation, mitochondrial and NADPH-oxidase-dependent production of reactive oxygen species (ROS), and the bactericidal activity of macrophages. As p.I254V and p.C284R resulted in diminished function and loss of function, respectively, FAMIN determined resilience to endotoxin shock. Thus, we have identified a central regulator of the metabolic function and bioenergetic state of macrophages that is under evolutionary selection and determines the risk of inflammatory and infectious disease.
在一种功能未知的蛋白质(此处称为“FAMIN”)中编码p.C284R和p.I254V的C13orf31(LACC1)单核苷酸变异与全身型幼年特发性关节炎、麻风病和克罗恩病的患病风险增加相关。在此,我们着手确定受这些编码变异影响的生物学机制。FAMIN在过氧化物酶体上与脂肪酸合酶(FASN)形成复合物,并促进从头脂肪生成通量,从而同时驱动高水平的脂肪酸氧化(FAO)和糖酵解,进而促进ATP再生。FAMIN依赖的FAO控制炎性小体激活、线粒体和NADPH氧化酶依赖的活性氧(ROS)生成以及巨噬细胞的杀菌活性。由于p.I254V和p.C284R分别导致功能减弱和功能丧失,FAMIN决定了对内毒素休克的耐受性。因此,我们确定了一种巨噬细胞代谢功能和生物能量状态的核心调节因子,该调节因子处于进化选择之下,并决定了炎症和感染性疾病的风险。