The frameshifted VNTR length determines the kidney survival in ADTKD-MUC1

Introduction: Autosomal dominant tubulointerstitial kidney disease due to MUC1 variants (ADTKD-MUC1) is caused by pathogenic variants leading to a frameshift in the MUC1 gene, most often because of the duplication of a cytosine in a 7-cytosine stretch within the coding variable number tandem repeat (VNTR). It has been regarded as genotypically uniform despite marked clinical heterogeneity. However, as the duplication can arise in any repeat unit, the length of the toxic MUC1-frameshift protein (MUC1-fs) may differ substantially between patients. We thus hypothesised that MUC1-fs length may det

This content is for informational purposes only and is not medical advice. It is not intended to diagnose, treat, cure, or prevent any disease. Consult a healthcare professional before starting any supplement, treatment, or program: especially if you are pregnant, nursing, taking medication, or managing a health condition.