Apr 1, 2024 · Mutations in the gene encoding MFN2 have been identified as associated with Charcot–Marie–Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system.

CMT2A is caused by mutations in a gene called MFN2, which produces the protein mitofusin-2. As a type 2 CMT, CMT2A is characterized by dysfunction of axons — the parts of the nerves that are responsible for carrying electrical signals to and from the body and central nervous system (brain and spinal cord). However, people with CMT2A usually ...

cmt2亚型a（cmt2a）是cmt2最常见的亚型。 它是由位于第1号染色体上的 MFN2 基因 的显性遗传突变引起的 ，编码mitofusin 2，一种参与线粒体（细胞内能量产生室）融合的蛋白质。

Mar 5, 2024 · Charcot-Marie-Tooth病（CMT）是一种神经系统疾病，症状包括运动神经和感觉神经的损伤，导致肌肉无力和感觉异常。其中，CMT2A是由MFN2基因突变引起的一种亚型。然而，目前尚未找到CMT2A的明确药物治疗方法。因此，寻找治疗CMT2A的新方法变得尤为重要。

轴突型腓骨肌萎缩症（CMT）是一种遗传异质性疾病，目前已鉴定出 11 种相关基因，其中又以 MFN2 基因突变最为常见（CMT2A）。 近期的 JAMA Neurol 杂志发表最新临床综述，旨在阐述 CMT2A 的临床与分子特征，从而明确预后影响因素，理解特定表型与临床严重后果间的相关性，并鉴定相关基因间的相互作用。 具体内容如下： 腓骨肌萎缩症（CMT），是一种遗传性运动感觉神经病变，以四肢远端进行性肌无力和萎缩伴感觉障碍为特征，具有明显的临床与遗传异质 …

CMT Type 2 represents axonal forms of Charcot-Marie-Tooth disease that are dominantly inherited and make up about one-third of all dominant CMT cases. Patients with Type 2 have a wider age range for onset of the disorder and more variation in degree of disability. (More about CMT Type 2: CMT_Type_2_Causes_Symptoms.pdf)

Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form of CMT, with significant allelic heterogeneity. Previous, moderately ...

CMT2A is the most prevalent axonal CMT type with a frequency of up to 30% among all CMT2 subtypes and accounts for about 10–15% of all CMT cases [6,188]. CMT2A is caused by mitofusin2 ( MFN2 ) gene mutations affecting MFN2, a GTPase protein anchored in the outer mitochondrial membrane, the function of which is mediated by the two ...

Nov 19, 2021 · CMT2 subtype A (CMT2A) is the most common form of CMT2. It is caused by dominantly inherited mutations in the MFN2 gene, located on chromosome 1, which codes for mitofusin 2 — a protein involved in the fusion of the mitochondria (energy-producing structures within the cells).

CMT2A is caused by dominant mutations in Mitofusin 2 (MFN2). The STAR team has developed two excellent rat models for CMT2A which are being made available to the research community and represent an important tool to test potential new modulators of mitofusin activity.