Nerve conduction abnormalities in the trembler-j mouse:: A model for Charcot-Marie-Tooth disease type 1A?
Nerve conduction abnormalities in the trembler-j mouse:: A model for Charcot-Marie-Tooth disease type 1A?
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DOI：
10.1111/j.1085-9489.2004.09310.x
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发表时间：
2004-09-01
影响因子：
3.8
通讯作者：
Weiss, MD
中科院分区：
文献类型：
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作者：
Meekins, GD;Emery, MJ;Weiss, MD
tremle -j小鼠是一种自发发生的脱髓鞘突变，继发于外周髓鞘蛋白22 （PMP-22）基因第一个跨膜区域的亮氨酸取代脯氨酸的点突变。主要基于病理观察，它被认为是1A型腓骨肌萎缩症（CMT1A）的模型。然而，与CMT1A患者同源性的功能研究尚未被记录。采用盲法对30日龄和72日龄野生型和trembler-j小鼠进行坐骨神经传导。两个年龄组的突变体的发现与深度脱髓鞘一致。Trembler-j小鼠似乎有更大程度的运动神经传导减慢相对于人类研究涉及患者的PMP-22基因复制。从功能上讲，trembler-j是CMT1A与相同点突变相关的良好小鼠模型，但可能代表比PMP-22基因重复继发的CMT1A更严重的疾病表型。
The trembler-j mouse is a spontaneously occurring, demyelinating mutant secondary to a point mutation involving a leucine for proline substitution in the first transmembrane domain of the peripheral-myelin protein-22 (PMP-22) gene. It is considered to be a model for Charcot-Marie-Tooth disease type 1A (CMT1A), largely based upon pathologic observations. However, functional studies demonstrating homology with CMT1A patients have not been documented. Sciatic nerve conduction was performed on 30 and 72-day-old wildtype and trembler-j mice in a blinded fashion. The findings in the mutants in both age groups were consistent with profound demyelination. Trembler-j mice appear to have a greater degree of motor nerve conduction slowing relative to human studies involving patients with PMP-22 gene duplication. Functionally, the trembler-j is a good murine model for CMT1A associated with an identical point mutation but may represent a more severe disease phenotype than CMT1A secondary to PMP-22 gene duplication.