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TGFBI mRNA is the transcript of the TGFBI gene, which encodes the transforming growth factor-beta-induced protein (also known as kerato-epithelin or BIGH3) [2.3.1, 2.3.2]. This protein is a secreted component of the extracellular matrix (ECM) that plays a vital role in cell adhesion, migration, and tissue development by interacting with integrins and collagen [2.3.1, 2.4.1]. In the eye, TGFBI is critical for maintaining corneal transparency, and mutations in the gene (e.g., R124H, R124C) lead to the production of misfolded proteins that aggregate into insoluble deposits, causing various hereditary corneal dystrophies [2.3.1, 3.4.1]. Beyond the cornea, TGFBI mRNA is a key mediator of TGF-beta signaling in cancer and fibrosis; its overexpression in advanced malignancies promotes epithelial-mesenchymal transition (EMT), invasion, and metastasis [2.1.2, 2.1.4]. As a therapeutic target, TGFBI mRNA is being addressed using RNA-based strategies like small interfering RNAs (siRNAs) and antisense oligonucleotides (ASOs) [2.2.1, 3.2.3]. These therapies, such as the investigational drug MDC-101, are designed to selectively silence mutant or overexpressed transcripts to prevent the accumulation of toxic protein aggregates or inhibit tumor progression [3.3.1, 3.4.4].
RNA interference (RNAi) and antisense-mediated mRNA degradation
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