Proteins, amino acids, genes – Laboratories at the Max Delbrück Center for Molecular Medicine (MDC) refer to complicated processes within cells. That's how scientists use their work to help them understand diseases. The world of science rarely overlaps with the daily lives of the sick. In most tissue or blood samples, anonymous patients find their way into the lab.
In the case of Dr. Med. Katrina Meyer was different. She especially worked with the patient. During her doctorate at MDC, she searched databases looking for gene mutations that cause the disease. In the process, Meyer wanted to find mutations that alter proteins at a particular site, in a piece of protein that many researchers consider to be rather irrelevant. In her research, she came across a mutation that causes Glut1 deficiency syndrome. Patients suffer from seizures that are sometimes reduced only by a strictly ketogenic diet, a renunciation of carbohydrates. In the end, Meyer found an American doctor who treated the mutation he had studied in the gene for Glut1. From him, Meyer received cell samples from the patient's hand, which Meyer subsequently processed in the laboratory. An unknown American patient, Macie, was from the United States, when the family at some point checked in with an MDC investigator. "Your mother contacted us," Meyer says.
Contacting Macie and her family was very special for Meyer. Meyer wanted to convey this story and for that reason he successfully wrote an article for the "KlarText – Communication for Science Communication Award": October 10, 2019. The Klaus Tschira Foundation awards Meyer text in the "Biology" category. Among other things, the article "Stray Proteins" appears. in the journal KlarText, supplement to the weekly DIE ZEIT.
During her doctoral studies at MDC, the native Berliner researched the molecular causes that trigger Glut1 deficiency syndrome in Macie. As with many other inherited diseases, the actual processes in the cell, Meyer says, are still poorly understood. In the group of Professor Matthias Selbach, she discovered what exactly causes the mutation in Macie's cells. Due to the change in the small fragment of Glut1 protein, it seems that the transport of sugar from blood to the brain is no longer working. Meyer noted that this could only be half the story with Macie: the mutation does not lead to a broken protein, but to a lost one: Glut1 was not in the cell membrane in Macie's cells, where it should be, but had strayed inside the cell. "There, however, he can no longer perform his task of transport molecule," Meyer concludes in his Ph.D. "Such a change in the protein attracts the molecules, which then send it inside the cell," she explains. This process is called endocytosis: The cell membrane inverts and absorbs particles from the environment and the membrane, which then land in the cell.
Meyer also explained this to Macie's family. Glenna Steele is Macie's mother and CEO of Glut1 Deficiency, an American foundation that seeks to raise awareness of people with this disease. Meyer and Steele exchanged images of Macie at Disneyland – and the Glut1 protein in the wrong place in the cell.
Macie and her family learned through email contact with Meyer why Glut1 could no longer fulfill its function as a transport molecule in Macie's body. The results of the research were published in the reputable journal "Cell". Meyer can imagine that it would be possible to develop targeted drugs with the knowledge of the mechanism of the disease. "The cure for Glut1 deficiency syndrome is not yet available. My work is more in basic research. Unfortunately, Macie is unlikely to benefit from my results any time soon," Meyer says.
"I don't want to lay false hopes"
Meyer finds it important to talk about research, even with people who aren't themselves scientists. She is one of the researchers who also reports on her work on Twitter. The "KlarText" member now addresses a large, unscientific audience for the first time. "It's important to me that people know that science results are often obtained in a very specific context, not that they are automatically carved in stone," she says. "By exhibiting Macie's family, I first became aware of the responsibility we carry as researchers – and that we should not say anything careless that could create false hopes." Even if direct help for Maci's disease is not yet in sight, it could, nevertheless, be a starting point for other scientists looking to develop therapies for Glut1 deficiency syndrome or other inherited diseases with the same cause.
For her article on Macie and the Lost Proteins, Meyer now receives $ 5,000 in prize money and a place in a science communication workshop. The Klaus Tschira Foundation has awarded a total of six researchers in the categories of Biology, Chemistry, Geosciences, Informatics, Mathematics, Neuroscience or Physics. "The award was intended to promote dialogue between researchers and the public," says Beate Spiegel, director of the Klaus Tschira Foundation. All winning entries are posted on the foundation's website.