In vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient

In this study, we utilized the 661W cell line to explore the molecular consequences of a homozygous variant in the ALG2 gene (c.752G>T; p.Arg251Leu), which encodes the enzyme α-1,3-mannosyltransferase. Following transfection with a plasmid carrying the variants of the gene of interest ALG2 p.Arg251/p.Arg251, we carefully evaluated changes in gene expression using RT-PCR and Western blotting. Our results suggest that the 661W cell line may serve as a useful model for examining the potential impact of a specific mutation, supporting a possible link between the mutation’s molecular effects and clinical disease progression.