Uromodulin pre-messenger RNA (UMOD pre-mRNA) (UMOD pre-mRNA)

Uromodulin pre-messenger RNA (UMOD pre-mRNA) is the primary transcript of the UMOD gene, which encodes uromodulin, the most abundant protein in normal human urine (Source: UniProt P07911). Uromodulin is synthesized exclusively by the epithelial cells of the thick ascending limb of the loop of Henle and is involved in regulating renal salt transport and providing innate immunity against urinary tract infections (Source: PubMed PMID: 28255001). Mutations in the UMOD gene cause the production of misfolded proteins that accumulate in the endoplasmic reticulum, leading to Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-UMOD), a condition characterized by progressive renal fibrosis and failure (Source: NIH GeneReviews). Furthermore, common genetic variants that increase the expression of wild-type uromodulin are associated with a higher risk of chronic kidney disease and hypertension (Source: PubMed PMID: 24141363). Therapeutic targeting of UMOD pre-mRNA, primarily through antisense oligonucleotides like IONIS-UMOD-LRx, aims to reduce the levels of uromodulin to mitigate the progression of kidney disease and manage associated metabolic complications (Source: Ionis Pharmaceuticals).

Other names

Tamm-Horsfall glycoprotein pre-mRNATHP pre-mRNAUromodulin transcriptUromodulin precursor mRNA

Antisense oligonucleotide-mediated RNase H-dependent degradation of the pre-mRNA transcript to reduce uromodulin protein expression.