Division of Biological Sciences, University of Missouri-Columbia, Columbia, MO 65211, USA.
Genes Brain Behav. 2012 Apr;11(3):360-5. doi: 10.1111/j.1601-183X.2012.00771.x. Epub 2012 Feb 23.
Charcot-Marie-Tooth disease (CMT) is the most commonly inherited peripheral neuropathy. CMT disease signs include distal limb neuropathy, abnormal gaiting, exacerbation of neuropathy, sensory defects and deafness. We generated a novel line of CMT2E mice expressing an hNF-L(E397K) transgene, which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons and decreased nerve conduction velocity. In this study, we showed that hNF-L(E397K) mice developed abnormal gait of the hind limbs. The identification of severe gaiting defects in combination with previously observed muscle atrophy, reduced axon caliber and decreased nerve conduction velocity suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2E. Therefore, hNF-L(E397K) mice provide a context for potential therapeutic intervention.
遗传性运动感觉神经病（Charcot-Marie-Tooth disease，CMT）是最常见的周围神经病。CMT 病的症状包括远端肢体神经病、步态异常、神经病恶化、感觉缺陷和耳聋。我们构建了一种新型的表达 hNF-L(E397K)转基因的 CMT2E 小鼠，该小鼠表现出下肢失神经支配的肌肉萎缩、大口径轴突近端减少和神经传导速度降低。在这项研究中，我们发现 hNF-L(E397K)小鼠出现了后肢异常步态。严重的步态缺陷与先前观察到的肌肉萎缩、轴突直径减小和神经传导速度降低相结合，提示 hNF-L(E397K)小鼠再现了许多与 CMT2E 相关的临床症状。因此，hNF-L(E397K)小鼠为潜在的治疗干预提供了背景。
