The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.
The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.
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DOI：
10.3389/fnins.2021.705277
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发表时间：
2021
影响因子：
4.3
通讯作者：
Yuan Y
中科院分区：
文献类型：
--
作者：
Wu R;Lv H;Wang H;Wang Z;Yuan Y
Mitofusin 2和神经节苷脂诱导的分化相关蛋白1是两种主要的线粒体动力学相关蛋白。这两种蛋白的功能障碍导致2A型（CMT2A）和CMT2K的不同亚型。本研究旨在报道CMT2A和CMT2K在大队列中的病理差异。30例分子证实的CMT2A患者和9例CMT2K患者通过下一代测序进行鉴定。29例患者行腓肠神经活检。两种疾病的患者均表现为长度依赖性神经病变，伴远端无力、感觉丧失和无深肌腱反射。3/30 (10%) CMT2A患者出现视神经病变。4/9 (50.0%) CMT2K患者出现肌腱挛缩。腓肠活检显示有髓和无髓神经纤维的丢失。在两种疾病的无髓神经纤维轴突中均观察到紧密排列、定向不规则的神经丝。另一个重要的发现是，在有髓鞘和无髓鞘轴突中，CMT2A中普遍存在较小的、圆形的和碎片化的线粒体，而CMT2K中则普遍存在细长的线粒体。这项研究证实了CMT2A和CMT2K在表型上的巨大差异。线粒体动力学相关的变异可引起不同的线粒体形态变化和轴突内神经丝的积累。
Mitofusin 2 and ganglioside-induced differentiation-associated protein 1 are two main mitochondrial dynamics-related proteins. Dysfunction of these two proteins leads to different subtypes of Charcot–Marie–Tooth disease type 2A (CMT2A) and CMT2K. This study aims to report the pathological difference between CMT2A and CMT2K in a large cohort. Thirty patients with molecularly confirmed CMT2A and nine with CMT2K were identified by next-generation sequencing. Sural nerve biopsies were performed in 29 patients. The patients with both diseases showed length-dependent neuropathy with distal weakness, sensory loss, and no deep tendon reflex. Optic neuropathy appeared in 3/30 (10%) patients with CMT2A. Tendon contracture appeared in 4/9 (50.0%) patients with CMT2K. Sural biopsy revealed the loss of both myelinated and unmyelinated nerve fibers. Closely packed, irregularly oriented neurofilaments were observed in axons of unmyelinated nerve fibers in both diseases. Another important finding was the ubiquitous presence of smaller, rounded, and fragmented mitochondria in CMT2A and elongated mitochondria in CMT2K in the myelinated and unmyelinated axons. This study confirmed large diversity in phenotypes between CMT2A and CMT2K. Mitochondrial dynamics-related variations can induce different mitochondrial morphological changes and neurofilament accumulation in axons.
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DOI：
10.1111/j.1529-8027.2011.00350.x
发表时间：
2011-09
期刊：
Journal of the peripheral nervous system : JPNS
影响因子：
--
作者：
Murphy SM;Herrmann DN;McDermott MP;Scherer SS;Shy ME;Reilly MM;Pareyson D
通讯作者：
Pareyson D
影响因子：
3.5
作者：
Sancho, Paula;Bartesaghi, Luca;Espinos, Carmen
通讯作者：
Espinos, Carmen
影响因子：
2.8
作者：
Fu, Jun;Dai, Shixu;Lv, He
通讯作者：
Lv, He
影响因子：
3.7
作者：
Georgiou A;Demetriou CA;Heraclides A;Christou YP;Leonidou E;Loukaides P;Yiasoumi E;Panagiotou D;Manoli P;Thomson P;Loizidou MA;Hadjisavvas A;Zamba-Papanicolaou E
通讯作者：
Zamba-Papanicolaou E
DOI：
10.1523/jneurosci.6338-11.2012
发表时间：
2012-03-21
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
--
作者：
Misko AL;Sasaki Y;Tuck E;Milbrandt J;Baloh RH
通讯作者：
Baloh RH