A recent study published in the journal Cell has investigated the process behind the genetic condition Glut1 deficiency syndrome. Many genetic disorders are thought to be caused by genetic alterations that cause specific proteins to be deformed, and therefore unable to function properly. However, the precise mechanism by which this works, and how the proteins shape changes, is often unclear. For more detailed information about this research, you can view the source news release here, on the website for the Max Delbrück Center for Molecular Medicine. Alternatively, you can view the original study by clicking here.
About Glut1 Deficiency Syndrome
Glut1 deficiency syndrome is a genetic condition that affects the movement of glucose into the brain. A significant majority of people who are affected by the condition (but not all) develop epilepsy, with seizures often occurring within the first few months of life. People with Glut1 deficiency syndrome can experience a range of symptoms; including movement disorders, developmental delays, and affected speech.
The Causes of Glut1 Deficiency Syndrome
Glut1 deficiency syndrome has been linked to alterations to the SLC2A1 gene. This gene codes for a protein called glucose transporter type 1 (Glut1). However, alterations to the gene affect the production of Glut1, leading to reduced levels of glucose being transported from the blood to the brain, which can affect the brains growth and functioning.
Katrina Meyer, a doctoral student investigating the mechanism by which Glut1 deficiency syndrome occurs, carried out research that suggested that, in some cases, Glut1 deficiency syndrome may be caused by the Glut1 protein moving to the ‘wrong’ part of the cell.
Testing this hypothesis, she used databases to find a patient who had Glut1 deficiency syndrome in which the protein had a certain type of mutation. This patient agreed to donate cells to Ms Meyer, and, using these, she was about to show that the Glut1 protein was in the interior of the cell, rather than on the cell surface. According to the source article, she was then able to block certain cell processes, and, as a result, the Glut1 protein moved to the cell surface and took part in glucose uptake. Matthias Selbach, the head of the laboratory, says that these findings show “considerable potential” for the development of new drugs.
To read about this study and the findings in more detail, click here.