Defective EMC1 Protein May Contribute to a Severe Ocular Disorder, Familial Exudative Vitreoretinopathy (FEVR)

In a groundbreaking study published October 11, 2022 in the journal Genes & Diseases, researchers from the University of Electronic Science and Technology of China uncovered a key relationship between the EMC1 protein and retinal vascular development. EMC1 is one of ten subunits of an endoplasmic reticulum (ER) protein complex implicated in ER-mitochondria crosstalk, protein folding, and possibly elimination of misfolded membrane proteins. Mutations in the EMC1 gene appear to be associated with familial exudative vitreoretinopathy (FEVR), a severe ocular condition. The discovery offers potential new therapeutic avenues for treating this disorder and other related vascular defects. The open-access Genes & Diseases article is titled “Defective EMC1 Drives Abnormal Retinal Angiogenesis Via Wnt/β-Catenin Signaling and May Be Associated with the Pathogenesis of Familial Exudative Vitreoretinopathy.”