Charcot-Marie-Tooth disease type 2A (CMT2A) is a form of CMT. While there is no cure for CMT2A, several promising therapeutic targets exist. Learn more here.

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)

CMT2A is the most common subtype of CMT2 (it accounts for 20% of the cases of axonal CMT) and is caused by defects in the MFN2 gene. The MFN2 gene encodes for mitofusin 2, which is a protein involved in the fusion of cellular mitochondria.

2021年11月19日 · 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).

The defect causing CMT2A is found on chromosome 1p36 at the MFN2 gene while CMT2B is characterized by severe ulceration problems and the defect is located on chromosome 3, the RAB 7 protein. Another name for CMT2 is “Axonal CMT” which alludes to the other defining characteristic of this type of CMT.

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.

Dominant mutations in Mitofusin 2 (MFN2) cause CMT2A2. Mitofusin 2 is localized in the outer membrane of mitochondria and is required for their normal fusion (Chen et al., 2003). This affects their function, as mitochondria isolated from cultured fibroblasts of CMT2A2 patients generate ATP less efficiently than those from normals.

2021年10月5日 · Charcot-Marie-Tooth (CMT) disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy as well as sensory loss. Symptoms occur first in the distal legs and later in the hands.

CMT2A is caused by mutations in a gene called MFN2, which produces the protein mitofusin-2. It usually presents with an earlier onset (childhood) and may be more severe than common types of CMT. Some patients with the MFN2 gene have optic neuropathy, causing blindness.

A number sign (#) is used with this entry because autosomal dominant Charcot-Marie-Tooth (CMT) disease type 2A2A (CMT2A2A) is caused by heterozygous mutation in the MFN2 gene (608507) on chromosome 1p36.