Department of Pediatrics, University Hospital Giessen and Marburg, Philipps University Marburg, 35043 Marburg, Germany.
Faculty of Medicine, Justus Liebig University Giessen, 35392 Giessen, Germany.
Int J Mol Sci. 2023 Aug 30;24(17):13433. doi: 10.3390/ijms241713433.
Melanoma-associated antigen D2 (MAGED2) plays an essential role in activating the cAMP/PKA pathway under hypoxic conditions, which is crucial for stimulating renal salt reabsorption and thus explaining the transient variant of Bartter's syndrome. The cAMP/PKA pathway is also known to regulate autophagy, a lysosomal degradation process induced by cellular stress. Previous studies showed that two members of the melanoma-associated antigens MAGE-family inhibit autophagy. To explore the potential role of MAGED2 in stress-induced autophagy, specific MAGED2-siRNA were used in HEK293 cells under physical hypoxia and oxidative stress (cobalt chloride, hypoxia mimetic). Depletion of MAGED2 resulted in reduced p62 levels and upregulation of both the autophagy-related genes (ATG5 and ATG12) as well as the autophagosome marker LC3II compared to control siRNA. The increase in the autophagy markers in MAGED2-depleted cells was further confirmed by leupeptin-based assay which concurred with the highest LC3II accumulation. Likewise, under hypoxia, immunofluorescence in HEK293, HeLa and U2OS cell lines demonstrated a pronounced accumulation of LC3B puncta upon MAGED2 depletion. Moreover, LC3B puncta were absent in human fetal control kidneys but markedly expressed in a fetal kidney from a MAGED2-deficient subject. Induction of autophagy with both physical hypoxia and oxidative stress suggests a potentially general role of MAGED2 under stress conditions. Various other cellular stressors (brefeldin A, tunicamycin, 2-deoxy-D-glucose, and camptothecin) were analyzed, which all induced autophagy in the absence of MAGED2. Forskolin (FSK) inhibited, whereas GNAS Knockdown induced autophagy under hypoxia. In contrast to other MAGE proteins, MAGED2 has an inhibitory role on autophagy only under stress conditions. Hence, a prominent role of MAGED2 in the regulation of autophagy under stress conditions is evident, which may also contribute to impaired fetal renal salt reabsorption by promoting autophagy of salt-transporters in patients with MAGED2 mutation.
黑色素瘤相关抗原 D2(MAGED2)在缺氧条件下激活 cAMP/PKA 途径中发挥重要作用,这对于刺激肾脏盐重吸收至关重要,从而解释了巴特氏综合征的短暂变体。cAMP/PKA 途径也被认为调节自噬,这是一种由细胞应激诱导的溶酶体降解过程。先前的研究表明,黑色素瘤相关抗原 MAGE 家族的两个成员抑制自噬。为了探索 MAGED2 在应激诱导的自噬中的潜在作用,在物理缺氧和氧化应激(氯化钴,缺氧模拟物)下,使用特定的 MAGED2-siRNA 在 HEK293 细胞中进行了实验。与对照 siRNA 相比,MAGED2 耗尽导致 p62 水平降低,自噬相关基因(ATG5 和 ATG12)以及自噬体标记物 LC3II 的上调。用亮肽素测定进一步证实了 MAGED2 耗尽细胞中的自噬标志物增加,这与 LC3II 的最高积累一致。同样,在缺氧条件下,HEK293、HeLa 和 U2OS 细胞系中的免疫荧光显示,MAGED2 耗尽后 LC3B 斑点明显积聚。此外,人胎肾对照中没有 LC3B 斑点,但在 MAGED2 缺陷患者的胎肾中明显表达。物理缺氧和氧化应激诱导的自噬表明,MAGED2 在应激条件下可能具有普遍作用。分析了各种其他细胞应激源(布雷菲德菌素 A、衣霉素、2-脱氧-D-葡萄糖和喜树碱),它们在没有 MAGED2 的情况下都诱导自噬。福司可林(FSK)抑制,而 GNAS 敲低在缺氧下诱导自噬。与其他 MAGE 蛋白不同,MAGED2 仅在应激条件下对自噬具有抑制作用。因此,MAGED2 在应激条件下对自噬的调节中起着重要作用,这也可能通过促进 MAGED2 突变患者的盐转运蛋白自噬来导致胎儿肾脏盐重吸收受损。