Proteins, amino acids, genes – in the laboratories of the Max Delbrück Center for Molecular Medicine (MDC), everything revolves around complicated cellular processes. Understanding these processes helps scientists better understand diseases. But the world of science seldom overlaps with the everyday lives of affected patients. At most, a tissue or blood sample from an anonymous patient might find its way into the lab.
Dr. Katrina Meyer, however, had a very different experience – she conducted research on a specific patient. During her PhD at the MDC, Meyer scoured databases in search of genetic changes that cause disease. Meyer wanted to find mutations that alter proteins at a very specific point, or segment, that many researchers consider to be relatively unimportant. During her research, she came across a mutation that causes Glut1 deficiency syndrome. Sufferers of this syndrome experience seizures, which can sometimes only be mildly eased by following a strict ketogenic – i.e., low-carb – diet. Eventually, Meyer tracked down a doctor in the United States who was treating a patient with a mutation in the Glut1 gene that she was investigating. He provided Meyer with cell samples from the patient’s arm, which she then processed in the laboratory. Then one day, this anonymous U.S. patient received a name: Macie. “Her mother got in contact with us,” reports Meyer.
The personal contact with Macie and her family was a very special experience for Meyer. The scientist wanted to share this story with a wider audience, so she decided to write an entry for the KlarText Prize for Science Communication – and with success. On October 10, the Klaus Tschira Foundation will award Meyer’s text with a prize in the “Biology” category. Meyer’s article “Verirrte Proteine” is written in German and will also be published in the popular science magazine KlarText, which is a supplement of the weekly newspaper Die ZEIT.
During her PhD work at the MDC, the Berlin native investigated the molecular causes that led to Macie contracting the Glut1 deficiency syndrome. As is true for many genetic disorders, according to Meyer, the cellular processes that underlie the syndrome have barely been studied. While conducting research in Professor Matthias Selbach’s lab, she discovered exactly what the mutation does to Macie’s cells. Because of changes to small fragments of the Glut1 protein, the transport of glucose from the blood to the brain appears to stop functioning. But Meyer found out that in Macie’s case this may be only half the story: The mutation doesn’t make the protein defective, but instead causes the protein to be misrouted. In Macie’s cells, Glut1 was not in the cell membrane, where it actually should have been, but had gone astray in the cell’s interior. “From there, it can no longer carry out its role as a transporter molecule,” surmises Meyer in her PhD thesis. “Such a change in the protein attracts molecules that transport it into the cell’s interior.” This is called endocytosis, a process in which the cell membrane buds inward and brings in particles from the surroundings and the membrane. These particles are then carried to the interior of the cell.
Meyer also explained all of this to Macie’s family. Glenna Steele is Macie’s mother and executive director of the Glut1 Deficiency Foundation, a U.S. nonprofit organization that seeks to raise awareness of this genetic disorder. Meyer and Steele exchanged pictures, for example, Macie at Disneyland – and the Glut1 protein at the wrong place in the cell.
Through email correspondence with Meyer, Macie and her family learned why Glut1 was no longer able to act as a transporter molecule in Macie’s body. The research findings were published in the distinguished journal Cell. Meyer believes it may be possible to use the knowledge about the disease mechanism to develop targeted drugs. “There is not yet a cure for Glut1 deficiency syndrome. Since my work involves mostly basic research, it’s unfortunately unlikely that Macie will benefit from my findings anytime soon,” says Meyer.
“I don’t want to raise false hopes”
Meyer thinks it’s important to have a conversation about research, even with people who aren’t scientists themselves. She’s one of those researchers who share news about their work on Twitter. The KlarText article was the first time she focused her writing toward a large lay audience. “I especially want people to know that scientific discoveries are often made in a very specific context and aren’t automatically written in stone,” she says. “Through my contact with Macie’s family, I first became aware of the responsibility I have as a researcher – and that one needs to carefully watch what one says so as not to raise false hopes.” Although there is no cure for Macie’s syndrome in sight, Meyer’s findings could very well give other scientists a new avenue for developing therapies against Glut1 deficiency syndrome or other genetic disorders with the same cause.
In recognition of her article about Macie and the stray proteins, Meyer will receive €5,000 in prize money and an invitation to a science communication workshop. The Klaus Tschira Foundation will honor a total of six researchers in the categories of Biology, Chemistry, Earth Sciences, Computer Science, Mathematics, Neuroscience or Physics. “Klaus Tschira established the prize to promote dialogue between researchers and the public,” says Beate Spiegel, executive director of the Klaus Tschira Foundation. All winning entries are published on the foundation’s website.
Text: Christina Anders
- regarding the presentation of the KlarText Prize for Science Communication (available in German only)
(winning entry by Dr. Katrina Meyer inthe “Biology” category of the2019 KlarText Prize for Science Communication, available in German only)
(MDC press release on the publication of findings in the journal Cell)
- (article on the graduation ceremony for 50 MDC PhD students)
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