MFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model.

ABSTRACT: Charcot-Marie-Tooth disease type 2A (CMT2A), the most common inherited peripheral axonal neuropathy, is associated with more than 100 dominant mutations, including R94Q as the most abundant mutation in the Mitofusin2 (MFN2) gene. CMT2A is characterized by progressive motor and sensory loss, color-vision defects, and progressive loss of visual acuity. We used a well-established transgenic mouse model of CMT2A with R94Q mutation on MFN2 gene (MFN2 ^R94Q ) to investigate the functional and morphological changes in retina. We documented extensive vision loss due to photoreceptor degeneration, retinal ganglion cell and their axonal loss, retinal secondary neuronal and synaptic alternation, and Müller cell gliosis in the retina of MFN2 ^R94Q mice.

SUBMITTER: Shahin S 

PROVIDER: S-EPMC10014277 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature