Niemann-Pick C1 messenger RNA (NPC1 mRNA) (NPC1 mRNA)

Niemann-Pick C1 (NPC1) messenger RNA is the nucleic acid sequence that encodes the NPC1 protein, a critical mediator of intracellular cholesterol trafficking. Located primarily in the membranes of late endosomes and lysosomes, the resulting NPC1 protein facilitates the egress of unesterified cholesterol into the cytosol for distribution to other organelles (UniProt P11033). Mutations in the NPC1 gene lead to Niemann-Pick disease type C1, a rare and progressive lysosomal storage disorder characterized by severe neurodegeneration and hepatosplenomegaly due to toxic lipid accumulation (NIH MedlinePlus). In drug development, NPC1 mRNA is a primary focus for mRNA replacement therapies, which aim to deliver functional copies of the transcript to restore protein function in patients (Orna Therapeutics). Additionally, the NPC1 protein serves as the essential intracellular receptor for filoviruses, including Ebola and Marburg, making the regulation of its mRNA a potential avenue for antiviral research (PubMed: 21866103). Current therapeutic challenges include the efficient delivery of mRNA across the blood-brain barrier to treat neurological symptoms and managing the potential for innate immune responses to exogenous nucleic acids (PubMed: 32653452).

Other names

NPC1 transcriptNiemann-Pick disease type C1 mRNANPC1 messenger RNA

mRNA replacement therapy (restoration of functional protein expression)