Collagen type VII alpha 1 chain messenger RNA (COL7A1 mRNA)

COL7A1 mRNA is the transcript of the Collagen Type VII Alpha 1 Chain gene, which encodes the alpha chain of type VII collagen, the fundamental component of anchoring fibrils that secure the epidermis to the dermis (NIH Gene, 2023). Mutations in the COL7A1 gene result in Dystrophic Epidermolysis Bullosa (DEB), a devastating genetic disorder characterized by skin fragility, chronic blistering, and an increased risk of aggressive squamous cell carcinoma (PubMed, PMID: 31505302). Therapeutic interventions targeting COL7A1 mRNA aim to restore the production of functional type VII collagen protein. This is achieved through gene therapy approaches like Beremagene geperpavec (Vyjuvek), which delivers COL7A1 DNA to produce functional mRNA, or through small molecules like gentamicin that promote translational read-through of nonsense mutations within the mRNA (FDA, 2023; PubMed, PMID: 28430595). Emerging mRNA replacement therapies also seek to deliver the transcript directly to skin cells to bypass the underlying genetic defect and promote wound healing.

Other names

Type VII collagen mRNACOL7A1 transcriptAlpha-1 type VII collagen mRNA

Exogenous delivery of genetic material to restore functional mRNA levels or pharmacological modulation of translation to bypass premature stop codons in the endogenous transcript.