Ceroid-lipofuscinosis neuronal protein 3 pre-messenger RNA (CLN3 pre-mRNA)

Ceroid-lipofuscinosis neuronal protein 3 (CLN3) pre-messenger RNA is the primary transcript of the CLN3 gene, which encodes battenin, a lysosomal transmembrane protein essential for cellular waste management and pH regulation (UniProt P42857). Mutations in this gene, most commonly a 1.02-kb deletion of exons 7 and 8, lead to Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), also known as Batten disease, a progressive neurodegenerative disorder (PubMed: 32814904). The CLN3 pre-mRNA is a target for therapeutic intervention using antisense oligonucleotides (ASOs) that modulate the splicing process. These ASOs are designed to bind to specific sequences within the pre-mRNA to induce exon skipping or redirect splicing, thereby restoring the reading frame and allowing for the production of a functional protein (PubMed: 25107474). This approach represents a precision medicine strategy to treat the underlying genetic defect in Batten disease, aiming to preserve neurological function and improve patient outcomes.

Other names

Battenin pre-mRNACLN3 precursor mRNACeroid-lipofuscinosis neuronal 3 transcript

Splicing modulation via antisense binding to pre-mRNA to induce exon skipping or restore the reading frame.