Department of Cell, Developmental, and Integrative Biology, University of Alabama School of Medicine, Birmingham, Alabama, United States of America.
PLoS Genet. 2013;9(9):e1003738. doi: 10.1371/journal.pgen.1003738. Epub 2013 Sep 5.
Mutations in VAPB/ALS8 are associated with amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), two motor neuron diseases that often include alterations in energy metabolism. We have shown that C. elegans and Drosophila neurons secrete a cleavage product of VAPB, the N-terminal major sperm protein domain (vMSP). Secreted vMSPs signal through Roundabout and Lar-like receptors expressed on striated muscle. The muscle signaling pathway localizes mitochondria to myofilaments, alters their fission/fusion balance, and promotes energy production. Here, we show that neuronal loss of the C. elegans VAPB homolog triggers metabolic alterations that appear to compensate for muscle mitochondrial dysfunction. When vMSP levels drop, cytoskeletal or mitochondrial abnormalities in muscle induce elevated DAF-16, the Forkhead Box O (FoxO) homolog, transcription factor activity. DAF-16 promotes muscle triacylglycerol accumulation, increases ATP levels in adults, and extends lifespan, despite reduced muscle mitochondria electron transport chain activity. Finally, Vapb knock-out mice exhibit abnormal muscular triacylglycerol levels and FoxO target gene transcriptional responses to fasting and refeeding. Our data indicate that impaired vMSP signaling to striated muscle alters FoxO activity, which affects energy metabolism. Abnormalities in energy metabolism of ALS patients may thus constitute a compensatory mechanism counterbalancing skeletal muscle mitochondrial dysfunction.
VAPB/ALS8 突变与肌萎缩侧索硬化症 (ALS) 和脊髓性肌萎缩症 (SMA) 有关,这两种运动神经元疾病通常包括能量代谢的改变。我们已经表明,秀丽隐杆线虫和果蝇神经元分泌 VAPB 的裂解产物,即 N 端主要精子蛋白结构域 (vMSP)。分泌的 vMSPs 通过 Roundabout 和 Lar 样受体在横纹肌上发出信号,这些受体表达在横纹肌上。肌肉信号通路将线粒体定位到肌原纤维,改变它们的分裂/融合平衡,并促进能量产生。在这里,我们表明,秀丽隐杆线虫 VAPB 同源物的神经元丢失会引发代谢改变,这些改变似乎是为了弥补肌肉线粒体功能障碍。当 vMSP 水平下降时,肌肉中的细胞骨架或线粒体异常会导致 Forkhead Box O (FoxO) 同源物转录因子 DAF-16 的活性升高。DAF-16 促进肌肉三酰基甘油的积累,增加成年期的 ATP 水平,并延长寿命,尽管肌肉线粒体电子传递链活性降低。最后,Vapb 敲除小鼠表现出异常的肌肉三酰基甘油水平和 FoxO 靶基因对禁食和再喂养的转录反应。我们的数据表明,向横纹肌传递受损的 vMSP 信号会改变 FoxO 活性,从而影响能量代谢。因此,ALS 患者的能量代谢异常可能构成一种补偿机制,以平衡骨骼肌线粒体功能障碍。