Fibrillin-1 mRNA (FBN1 mRNA) (FBN1 mRNA)

Fibrillin-1 mRNA (FBN1 mRNA) is the messenger RNA transcript of the FBN1 gene, which encodes the fibrillin-1 protein, a large glycoprotein essential for the formation and maintenance of extracellular matrix microfibrils (UniProt P35555). These microfibrils provide structural support to various tissues, including the aorta, eyes, and skin, and play a critical role in regulating the bioavailability of transforming growth factor-beta (TGF-beta). Mutations in the FBN1 mRNA lead to the production of abnormal fibrillin-1 protein, which causes Marfan syndrome and other fibrillinopathies through dominant-negative interference or haploinsufficiency (OMIM 154700). Therapeutic targeting of FBN1 mRNA is an emerging area of research, primarily focusing on allele-specific silencing using antisense oligonucleotides (ASOs) or RNA interference (siRNA) to selectively degrade mutant transcripts while sparing the wild-type allele (PubMed: 29360100). By reducing the levels of defective protein, these strategies aim to restore normal microfibril assembly and prevent the progression of life-threatening conditions like aortic root aneurysm and dissection (PubMed: 31515458). Although no mRNA-targeted therapies for FBN1 are currently FDA-approved, they represent a promising precision medicine approach for treating the underlying genetic cause of Marfan syndrome.

Other names

FBN1 transcriptFibrillin-1 transcriptFBN1 pre-mRNA

Allele-specific silencing, RNA interference, Splice modulation