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ASN KIDNEY WEEK 2023
Research on ADTKD
November 13, 2023 - Several research papers on ADTKD were presented at the American Society of Nephrology (ASN) Kidney Week.
[FR-PO585]
Dissecting Heterogeneity and Common Pathogenetic Pathways in Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in RENHeterogeneity and pathogenesis in ADTKD-REN
Renin is a protein composed of three domains: the leader peptide, a pro-segment and the mature part. The first two domains share a common cellular phenotype associated with early-onset disease, whereas disease appears to manifest late in mutants in the mature part.
Peptide-conjugated phosphorodiamidate morpholino oligomers (PPMOs) prevent UMOD expression and can apparently reduce the accumulation of misfolded UMOD proteins in cells. The protein reduction lasted for at least 28 days after a single dose. PPMOs are nucleic acid analogues used in molecular biology to achieve gene knockdown.
[PUB229]
Autosomal Dominant Tubulointerstitial Kidney Disease due to Uromodulin Mutation (ADTKD-UMOD)
Case study of a patient with ADTKD-UMOD.
[FR-PO308]
The Influence of MUC1 on Mg2 Handling
These studies provide a mechanistic explanation for the influence of MUC1 on Mg 2 homeostasis
[SA-PO1034]
MUC1 on Urinary Extracellular Vesicles for Detection of Impaired Renal Function
MUC1 expression in urinary extracellular vesicles may be a proteinuria-independent biomarker for renal dysfunction.
[SA-PO747]
An Updated Analysis of the Irish Kidney Gene Project RegistryNew analysis of the prospective cohort study with longer follow-up.
A total of 593 families (976 individuals) were sequenced. Disease-causing variants in three phenotypes accounted for up to 76% of cases. These included MUC1 (n=6), UMOD (n=3), HNF1B (n=5), and DNAJB11 (n=1), which are associated with tubulointerstitial diseases.
https://www.asn-online.org/education/kidneyweek