What’s the matter with me? My hands are shaky, and my muscles are getting stiffer and stiffer. With every movement, I feel as if I have to fight an inner wall – as if my body is walled in," Silke Schumacher said. (Name altered by the editors.) She can hardly write any longer and has difficulties brushing her teeth. When she consulted a doctor, she received the bitter diagnosis that she has Parkinson’s disease (shaking palsy).
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When the first symptoms of Parkinson’s disease appear, the disease has actually been progressing for years. It begins with specialized nerve cells in an important region of the midbrain dying off little by little. Their demise causes a gap in the information chain between the brain and the muscles.
However, it is not until 70 to 80 percent of these special nerve cells have died off that the first symptoms appear: simple daily tasks, like tying one's shoes, get more and more difficult. A person’s handwriting is affected, too, as it becomes progressively smaller and shakier over time.
What exactly causes this mysterious dying-off of the nerve cells in the midbrain? As the result of genetic analyses, we know that certain alterations in our hereditary material can cause Parkinson’s disease.
Scientists are currently trying to trace these mutated genes. Recently, researchers from the German National Genome Research Network achieved a breakthrough in their investigation. They discovered one of the disease genes for Parkinson’s, PARK8. In the DNA of families that were affected by Parkinson’s, the research team detected five variants of the PARK8 gene that cause the disease.
Detecting the disease gene was a Sisyphean task,” Professor Thomas Gasser at the Hertie Institute for Clinical Brain Research said. "At first, we had a close look at short segments of the DNA in 21 families in order to see whether there are segments that are identical in ill family members. This way, we could determine the approximate region in which the disease gene had to be located. But ultimately, there were still 29 genes left that we had to systematically examine.”
In order to trace the disease gene, the researchers examined each letter of the 29 suspicious genes closely. In the end, the researchers found a mutated gene letter in six families - to be precise, only in the ill family members. The disease gene PARK8 had been found.
"Such extensive research is only possible when many scientists act in concert, as in the National Genome Research Network," Professor Gasser, who is head of the 21-member research group, said. “In addition, we have collaborated closely with an American research team at the Mayo Clinic in Jacksonville, Florida. This team has contributed considerably to the project.”
Page 2: Different forms of Parkinson’s disease, and why it is important to learn more about the causes and development of the disease.
