Professor Bente Vilsen from Aarhus University and her research group are part of an international consortium that 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.
“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.