When Dr. Bodo Beck first saw the three children of a family who had fled Syria sitting in his consultation room at University Hospital Cologne, the human geneticist was surprised. His genetic analysis diagnosed Bartter syndrome type 3, but never before had he seen such severe joint changes in patients with this rare disease.
The kidney disease is hereditary—affected individuals lack the CLCNKB gene, which is responsible for a specific chloride channel. The electrolyte balance becomes disrupted because the kidneys cannot reabsorb important nutrients and salts back into the bloodstream during filtration and urine production.
To find this out would require taking a closer look at the disease-causing genes, so he contacted Dr. Janine Altmüller, head of the Genomics Platform of the Max Delbrück Center and the Berlin Institute of Health at Charité . Long-read sequencing, on the other hand, can accurately read much longer stretches of DNA in a single run, typically in the thousands or even tens of thousands of base pairs. So the individual pieces of this giant puzzle consisting of complex repeating patterns are larger, making it easier to put them back together correctly.
on the kidneys and was present in nearly half of the healthy control individuals. But it was almost always present in the patients with Bartter syndrome.The researchers suspect that this pattern in the genome favors the emergence of disease-causing gene variants."The structural change is fascinating because, in evolutionary terms, it is a mutation hot spot," says Altmüller.
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