Optic atrophy 1 pre-mRNA (pre-mRNA transcript of the Optic atrophy 1 gene) (OPA1 pre-mRNA)

The OPA1 pre-mRNA is the unspliced transcript of the **Optic atrophy 1 gene (OPA1)**, encoding the mitochondrial dynamin-like GTPase critical for mitochondrial inner membrane fusion, cristae architecture, and apoptotic regulation. The OPA1 gene undergoes complex alternative splicing, producing eight different mRNA isoforms, which give rise to long and short protein forms essential for mitochondrial function. Pathogenic variants in the gene, including those affecting splicing of the pre-mRNA, can lead to dominant optic atrophy and syndromic forms (DOA+), often through haploinsufficiency or dominant-negative mechanisms[6][7][8]. OPA1 pre-mRNA itself is not a direct drug target but is of high research interest for its role in disease mechanisms and potential as a biomarker.

Other names

OPA1 pre-mRNAOPA1 precursor RNAOPA1 transcript before splicing

Modulation of splicing could change OPA1 isoform ratio, potentially affecting disease outcomes