Neurometabolic Diseases Laboratory, IDIBELL, Hospital Duran I Reynals, Gran Via 199, L'Hospitalet de Llobregat, 08908, Barcelona, Spain.
CIBERER U759, Center for Biomedical Research On Rare Diseases, Madrid, Spain.
Acta Neuropathol. 2022 Aug;144(2):241-258. doi: 10.1007/s00401-022-02451-2. Epub 2022 Jul 1.
Aberrant endocannabinoid signaling accompanies several neurodegenerative disorders, including multiple sclerosis. Here, we report altered endocannabinoid signaling in X-linked adrenoleukodystrophy (X-ALD), a rare neurometabolic demyelinating syndrome caused by malfunction of the peroxisomal ABCD1 transporter, resulting in the accumulation of very long-chain fatty acids (VLCFAs). We found abnormal levels of cannabinoid receptor 2 (CB2r) and related endocannabinoid enzymes in the brain and peripheral blood mononuclear cells (PBMCs) of X-ALD patients and in the spinal cord of a murine model of X-ALD. Preclinical treatment with a selective agonist of CB2r (JWH133) halted axonal degeneration and associated locomotor deficits, along with normalization of microgliosis. Moreover, the drug improved the main metabolic disturbances underlying this model, particularly in redox and lipid homeostatic pathways, including increased lipid droplets in motor neurons, through the modulation of the GSK-3β/NRF2 axis. JWH133 inhibited Reactive Oxygen Species elicited by excess VLCFAs in primary microglial cultures of Abcd1-null mice. Furthermore, we uncovered intertwined redox and CB2r signaling in the murine spinal cords and in patient PBMC samples obtained from a phase II clinical trial with antioxidants (NCT01495260). These findings highlight CB2r signaling as a potential therapeutic target for X-ALD and perhaps other neurodegenerative disorders that present with dysregulated redox and lipid homeostasis.
异常的内源性大麻素信号伴随着几种神经退行性疾病,包括多发性硬化症。在这里,我们报告了 X 连锁肾上腺脑白质营养不良(X-ALD)中内源性大麻素信号的改变,这是一种罕见的神经代谢脱髓鞘综合征,由过氧化物酶体 ABCD1 转运蛋白的功能障碍引起,导致非常长链脂肪酸(VLCFA)的积累。我们在 X-ALD 患者的大脑和外周血单核细胞(PBMC)以及 X-ALD 小鼠模型的脊髓中发现了大麻素受体 2(CB2r)和相关内源性大麻素酶的异常水平。用 CB2r 的选择性激动剂(JWH133)进行临床前治疗,可阻止轴突变性和相关的运动功能障碍,同时微胶质细胞增生正常化。此外,该药物改善了该模型的主要代谢紊乱,特别是在氧化还原和脂质稳态途径中,包括通过调节 GSK-3β/NRF2 轴,增加运动神经元中的脂滴。JWH133 抑制了 Abcd1 基因缺失型小鼠原代小胶质细胞中过量 VLCFA 引起的活性氧。此外,我们在小鼠脊髓和从抗氧化剂二期临床试验(NCT01495260)获得的患者 PBMC 样本中发现了相互交织的氧化还原和 CB2r 信号。这些发现强调了 CB2r 信号作为 X-ALD 及其他可能存在氧化还原和脂质稳态失调的神经退行性疾病的潜在治疗靶点。