“UMCG-led Study Identifies Previously Unknown Gene Flaw Responsible for Rare Hereditary Kidney Disease in Large Dutch Family – Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-MUC1)”

2023-05-01 12:11:22

In an internationally conducted study coordinated by Prof. Dr. Martin de Borst (UMCG), the explanation was found for the kidney failure in a large Dutch family. A previously undiscovered flaw in the mucin 1 gene (MUC1) appears to be the culprit. That’s what the researchers are recording Kidney International.

The family has been known for more than 60 years in various Dutch hospitals and consists of more than 350 family members from 8 generations. The cause of their kidney failure was unknown all along. Now they appear to have a rare hereditary kidney disease: autosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1). It was already known that other defects in it MUC1gene can cause this kidney disease. The gene defect causes the mucin 1 protein to accumulate, causing kidney damage and eventually kidney failure.

A team of nephrologists and clinical geneticists from the UMCG and UMC Utrecht discovered the gene defect using ‘massive parallel sequencing’, which screens a large number of genes simultaneously for errors. The affected family members were found to have a defect in the MUC1gene and healthy family members do not. Together with researchers in the Czech Republic and the United States, the diagnosis was confirmed. There is no treatment yet for the kidney disease, but research into this is in full swing.

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