The World Health Organization is alarmed by the rise in the number of neurological diseases, hence approving the 2022-2031 action plan to combat neurodegenerative disorders. Among the most mysterious is Parkinson’s disease.
Over the past quarter century, its prevalence has doubled. Today, about 10 million people worldwide suffer from Parkinson’s disease. The brains of these people, for unknown reasons, stopped producing the neurotransmitter dopamine. Over time, patients experience impaired brain function, tremors, and loss of muscle control.
Existing drugs can make up for the lack of dopamine and reduce the symptoms of Parkinson’s disease, but so far there are no therapies to curb its development. As a rule, the disease is characteristic of older people, and men are more often diagnosed with this disease than women. But in some cases, symptoms appear at a fairly early age – in 30-40 years.
A terrible disease
World science is actively working on methods for diagnosing and treating a terrible disease: at Osaka University they created a neural network that can detect motor dysfunction by the slightest symptoms, at Florida Atlantic University they found a molecule that triggers the death mechanism of dopamine neurons.
Siberian biologists also contribute to the study of the causes of the disease: a friendly tandem of employees of the laboratory of epigenetics of development of the Federal Research Center “Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences” (FRC ICG SB RAS) and doctors of the Federal Center for Neurosurgery has recently received impressive results.
As you know, Nobel laureate Shinya Yamanaka gave biologists a fairly simple tool for reprogramming cells. Thanks to his discovery, induced pluripotent stem cells can be obtained from adult human cells using a relatively simple genetic manipulation and then directionally differentiated into any other cells. In other words, today’s unique technologies make it possible to grow a “patient” in a Petri dish and test new approaches to therapy on cellular models of diseases. But materials for research – samples of tissues and cells of patients – can only be obtained in a medical institution. Therefore, interaction with practicing doctors is necessary for scientists, but brings bonuses to the doctors themselves.
“We are not limited in our work only by our “craft” as a neurosurgeon. And besides the traditional “clinical” science, the essence of which is to track the results of applying certain methods and technologies of treatment, we are always looking for ways to fundamental science, we try to establish cooperation with representatives of academic institutions, with our neighbors from Akademgorodok.
“A few years ago, with great enthusiasm, interest and gratitude, we accepted the proposal of a group of researchers led by Professor Suren Zakian to work together. And since then, several interesting projects have been implemented related to genetic research in patients with Parkinson’s disease, dystonia, as well as other so-called “movement diseases”. Our cooperation continues, other projects appear,” says the head of the Federal Center for Neurosurgery, Doctor of Medical Sciences Jamil Rzayev.
Study of Parkinson’s disease
The center’s patients suffering from Parkinson’s disease agreed to help the scientists. In the laboratory of epigenetics of development of the Federal Research Center of the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, they master a rare art: after a series of manipulations, a cellular model is obtained from several milliliters of blood, which can be used to study which genetic mechanisms caused the development of the disease in a particular patient.
Projects on the study of Parkinson’s disease were supported by grants from the Russian Science Foundation, the Russian Foundation for Basic Research and the Fund for Scientific and Technological Development of Yugra.
Parkinson’s disease results from
Parkinson’s disease is thought to result from a complex interaction between genetic factors and environmental stressors. After several years of research, Novosibirsk biologists suggested that the early development of the disease is still associated with hereditary mechanisms. The new project sequenced and studied the DNA of five patients suffering from parkinsonism from a fairly young age. And each managed to identify pathological mutations of different genes.
“It is worth noting that these mutations were quite diverse. This indicates the complexity of the genetic mechanisms involved in the development of the disease,” said Sergey Medvedev, Ph.D.
This is just the beginning – research will continue in several directions. First, in order to fully understand the role of the identified mutations, it is necessary to further examine selected patients. Which, by the way, will allow us to adjust the strategy of their treatment in accordance with new data. Secondly, scientists expect to obtain new biological material by expanding the circle of study participants.
And as a result, on the basis of such material, they plan to create cellular models that will make it possible to carefully study the nature of neurodegenerative pathology and, possibly, unravel the mystery of Parkinson’s disease. Of course, this research is purely fundamental. But after some time they can acquire applied value. Knowing which genetic mutations lead to early parkinsonism can more accurately predict the risk of its development.
Russian Academy of Sciences first shared this post.