Department of Pharmacy & Drug Sciences, University of Bari Aldo Moro, Bari, Italy.
Department of Precision and Regenerative Medicine and Ionian Area, School of Medicine, University of Bari Aldo Moro, Bari, Italy.
Neurotherapeutics. 2024 Oct;21(6):e00455. doi: 10.1016/j.neurot.2024.e00455. Epub 2024 Sep 24.
Mexiletine is the first choice drug in the treatment of non-dystrophic myotonias. However, 30% of patients experience little benefit from mexiletine due to poor tolerability, contraindications and limited efficacy likely based on pharmacogenetic profile. Safinamide inhibits neuronal voltage-gated sodium and calcium channels and shows anticonvulsant activity, in addition to a reversible monoamine oxidase-B inhibition. We evaluated the preclinical effects of safinamide in an animal model of Myotonia Congenita, the ADR (arrested development of righting response) mouse. In vitro studies were performed using the two intracellular microelectrodes technique in current clamp mode. We analyzed sarcolemma excitability in skeletal muscle fibers isolated from male and female ADR (adr/adr) and from Wild-Type (wt/wt) mice, before and after the application of safinamide and the reference compound mexiletine. In ADR mice, the maximum number of action potentials (N-spikes) elicited by a fixed current is higher with respect to that of WT mice. Myotonic muscles show an involuntary firing of action potential called after-discharges. A more potent activity of safinamide compared to mexiletine has been demonstrated in reducing N-spikes and the after-discharges in myotonic muscle fibers. The time of righting reflex (TRR) before and after administration of safinamide and mexiletine was evaluated in vivo in ADR mice. Safinamide was able to reduce the TRR in ADR mice to a greater extent than mexiletine. In conclusion, safinamide counteracted the abnormal muscle hyperexcitability in myotonic mice both in vitro and in vivo suggesting it as an effective drug to be indicated in Myotonia Congenita.
美西律是治疗非营养不良性肌强直的首选药物。然而,由于耐受性差、禁忌症和疗效有限(可能基于药物遗传学特征),30%的患者对美西律的疗效不佳。沙非酰胺抑制神经元电压门控钠和钙通道,并具有抗惊厥活性,此外还具有可逆的单胺氧化酶-B 抑制作用。我们在先天性肌强直的动物模型(ADR 小鼠)中评估了沙非酰胺的临床前作用。在体内研究中,我们使用双细胞内微电极技术在电流钳模式下进行了研究。我们分析了从雄性和雌性 ADR(adr/adr)以及野生型(wt/wt)小鼠分离的骨骼肌纤维的肌膜兴奋性,在应用沙非酰胺和参考化合物美西律之前和之后。在 ADR 小鼠中,固定电流诱发的动作电位(N 峰)的最大数量高于 WT 小鼠。肌强直肌肉会出现不自主的动作电位放电,称为后放电。与美西律相比,沙非酰胺在减少肌强直纤维的 N 峰和后放电方面表现出更强的活性。我们在 ADR 小鼠中评估了给药前后沙非酰胺和美西律对翻正反射时间(TRR)的影响。沙非酰胺在 ADR 小鼠中降低 TRR 的作用大于美西律。总之,沙非酰胺在体外和体内均能拮抗肌强直小鼠的异常肌肉过度兴奋,表明其是治疗先天性肌强直的有效药物。