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Genetic defect: fat food counteracts movement disorders

Genetic modifications of a sugar transport protein might lead to movement disorders under permanent physical strain. This can be counteracted by fat-rich food as scientists from the University Hospital of Ulm have found out.

Our brain requires energy to function properly, in particular in the form of glucose. On its way from the blood into the brain, glucose must cross the blood-brain barrier. This is achieved through a highly specialised protein, the glucose transporter. Scientists led by Holger Lerche, head of the Department of Epileptology at the Neurological University Hospital, have discovered a genetic defect in the transporter and examined how it works.

Problem: energy-consuming sport

If people with this genetic defect consume a lot of energy, for example during sport, then the glucose transporter is unable to provide the nerve cells in the brain with sufficient energy. “Since the nerve cells also control the coordination of movements, the people concerned suffer from movement disorders that impede their daily life considerably,” explains Lerche. The defect also leads to a delay in development, epilepsy and anaemia.

The body can be outwitted with ketone bodies

Prof. Dr. Holger Lerche (Photo: University Hospital Ulm)
Patients suffering from this condition can find relief through the consumption of fat-rich food. “It is possible to take advantage of the fact that the brain shifts from using glucose to using fat (ketone bodies) within a few days when experiencing hunger,” said Lerche.

“If the patients eat fat-rich food, the brain is outwitted and starts to consume ketone bodies. The nerve cells receive sufficient energy and the movement disorders disappear.”

In a family with this genetic defect, this dietary regime led to an improvement in the movement of the children, and previously untreatable epileptic seizures disappeared. The diet was chosen on the basis of the new findings.

New cause of anaemia discovered

The team of scientists led by Holger Lerche also found out that the genetic defect also led to anaemia: the same protein that transports glucose into the brain, also transports glucose into the red blood cells. The genetic defect makes the transporter permeable to dissolved salts (ions). As a result, ions, particularly calcium ions, can easily enter the red blood cells and destroy them.

The scientists hope that an understanding of such genetic defects will, in the long term, lead to better therapies for movement disorders, epilepsy and similar diseases of the nervous system. In addition, the scientists plan to test their hypothesis that such glucose transporter defects occur a lot more frequently than is currently assumed.

The scientists from Ulm worked together with groups from Göttingen, Dresden, Tübingen, London and Bari. The findings were published on 1st May in the online version of “The Journal of Clinical Investigation” (Weber et al., GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak).

Source: University Hospital Ulm - 29th April 2008 (wp, 30th April 2008)
Website address: https://www.gesundheitsindustrie-bw.de/en/article/news/genetic-defect-fat-food-counteracts-movement-disorders