No abstract

Four different FOXC1 mutations were found in four of six Japanese pedigrees with Axenfeld-Rieger syndrome. This was a new mutation in two pedigrees that was not found in earlier generations. This study confirms that mutations in this gene cause maldevelopment of the anterior segment of the eye.

A human spinal muscular atrophy (SMA)‐derived induced pluripotent stem cell (iPSC) disease model was established. The neural differentiation of SMA‐iPSCs shortened the dendrite and axon length and increased apoptosis of the spinal motor neurons. This human in vitro disease model stimulated SMA pathology and revealed the potential efficacy of thyrotropin‐releasing hormone (TRH) analog treatment for SMA. Novel therapeutic drugs can be screened easily and effectively using the human SMA‐iPSC model.

Timolol should be considered a potential therapeutic agent specific to OPTNE50K-NTG because it can reduce the OPTNE50K aggregation in E50K-iPSCs-RGCs by enhancing autophagic flux and neuroprotective effects.