Professor Bente Vilsen from Aarhus University and her research group are part of a consortium, which have mapped out a newly discovered serious disease which causes children to suffer epileptic seizures, loss of magnesium in urine and reduced intelligence. Once again, Jens Chr. Skou’s sodium-potassium pump demonstrates its amazing value in relation to the understanding of disease.
Using a genetic analysis, the researchers have discovered that the disease is caused by a newly occurring mutation in one of the sodium-potassium pump’s four forms, known as the Alpha-1 form. Even though the children have exactly the same three symptoms, they do not have the same genetic defect, as the amino acids in the pump protein which are genetically altered are different, explains Bente Vilsen.
“It turns out that the form of sodium-potassium pump which mutates is found in both the kidneys and the brain. The mutation leads to the kidneys, which normally absorb magnesium, instead secreting the substance in the urine; however, it is not the loss of magnesium which triggers the epileptic seizures. The convulsions occur because the sodium-potassium pump is also extremely important for the brain’s functions, meaning that giving extra magnesium supplements won’t help prevent the seizures,” says Bente Vilsen.