With 2-millimeter flies, they look for genetic causes of Parkinson's in Latin America
Chilean scientists analyze vinegar fly to find genetic variability in patients in Chile and Latin America. Currently, the genes associated with the disease at the continental level are not known, which allow the development of therapies to protect the population from this disease. "We want to find new genes that allow the scientific community to better understand the molecular mechanisms of pathology," explains one of them, Patricio Olguín.
Discovering new genes that allow the scientific community to understand the molecular basis of Parkinson's disease, deepening the mechanisms of action responsible for the disease in the population of Chile and Latin America, is one of the objectives of the research being developed by Patricio Olguín and Gonzalo Olivares, scientists from the Millennium Institute of Biomedical Neuroscience, BNI, from the Faculty of Medicine of the University of Chile and Andrés Klein, of the University of Development.
Using as a study model a two-millimeter-long fly, known as Drosophila melanogaster, academics are looking for genetic networks associated with greater protection and susceptibility, such as the progression of this pathology. With these studies, professionals aim to enhance personalized or precision medicine in Parkinson's disease.
Using as a study model a two-millimeter-long fly, known as Drosophila melanogaster, academics are looking for genetic networks associated with greater protection and susceptibility, such as the progression of this pathology. With these studies, professionals aim to enhance personalized or precision medicine in Parkinson's disease.
"Parkinson's is very heterogeneous in its symptomatic presentation and also in the progression of the disease. Therefore, what is believed is that they are different combinations of genes that act on different individuals. By recognizing the variability of the different clinical manifestations of Parkinson's we will help to better address this pathology. Thus, and in order to obtain better therapeutic results, patients should be treated pharmacologically according to their own characteristics," olguín says.
For its part, Olivares emphasizes that the work they are doing "is an approximation with a real focus on a patient, what we are going to deliver is a knowledge base focused on understanding Parkinson's disease as something that should be treated for according to certain particular parameters of people and that is important, because not all individuals should receive exactly the same treatment."
In addition, using genetic models can map genes and better understand the origin of clinical phenotypes of the disease. "Careful classification of patients by clinical signs is key, to improve the development of therapies and fundamental to the development of precision medicine," says Olivares.
More than 90 genes
According to the Ministry of Health, Parkinson's is considered the second most common neurodegenerative disorder in the country, after Alzheimer's. The disease can be inherited (where a gene causes the disease directly), as well as having a sporadic or spontaneously appearing character, this is idiopathic Parkinson's.
Olguín says that the sporadic is the one that most affects the population, with 85%, while the remaining 15% corresponds to the hereditary classification.
Internationally - especially in Europe and the United States - 90 risk genes related to sporadic Parkinson's have been found. "The point is that studies with these variations do not represent the population of Asia, Africa and Latin America. European risk markers are not necessarily the same for the rest of the planet," Olivares stresses.
In addition, the determination of genetic components is made even more difficult to understand that not all individuals are exposed to or respond in the same way to the same environmental factors.
"We aim to find new genes that cause Parkinson's, which are typical of Chile and Latin America," olguín says.
Researchers induce the disease in the fly that is used as a study model, then look at which genes make it most susceptible to developing the pathology and those that protect it from doing so.
The BNI scientist adds, "Once we have the gene networks, we look at Parkinson's diseased genomes to analyze the presence of genetic variants that might be associated with the severity of the phenotype and that, in addition, that variable is present in the people from our continent."
In this way, when therapies are generated, they are probably going to be different for a Latin American than for a European. "This already exists with other diseases and that's what we're trying to push."
Fly genome and environmental pollution
Olguín points out that 70% of disease-causing genes in humans are preserved in Drosophila melanogaster. In addition, they have similar behavior to humans, "sleep, walk, have memory, may be aggressive or addicted to certain substances".
This background allowed Olguín, Olivares and Klein to hypothesize that the network of genes related to protection and susceptibility in flies affected by idiopathic Parkinson's are very similar to those of humans, which was published recently in the prestigious scientific journal dedicated to medicine Trends in Molecular Medicine.
Parkinson's figures
This progressive neurodegenerative disorder manifests itself as a result of the death of dopaminergic neurons, which are responsible for movement, motivation and cognitive function.
Figures delivered by the World Health Organization, WHO, indicate that there are about 7 million people diagnosed with Parkinson's worldwide worldwide and that by 2030 cases will exceed 12 million.
It is important to note that there are currently medications that can improve early symptoms of Parkinson's disease. However, over time they lose their effectiveness and can cause side effects as the disease progresses. Therefore, genetic identification will allow to develop personalized therapies for those patients who manifest evil.
Specialist meeting
On December 12, scientists presented their research at the Center for Movement Disorders (CETRAM) in Santiago, an entity that concentrates the largest number of patients with mobility-related diseases, including Parkinson's.
On the occasion Olguín, Klein and Olivares presented the results obtained to date.
"We provide a list of new genes found, different from the existing 90s. This payroll will be interconnected, forming a network, knowing in advance how they relate to each other, that will be our contribution. So, with the information in that network we can understand and predict perhaps the functioning or consequences that a change in the gene can have," says Olivares.
In addition, it was a unique opportunity to consolidate a network of clinical specialists and researchers that aims to characterize the genome of Chilean Parkinson's patients.
"Understanding the biological basis of variations in clinical phenotypes and the genome of Chilean patients will enable their stratification and the design of personalized therapies. This, combined with molecular studies in patients, could accelerate biomarker discoveries specific to gravity-associated symptoms for precision medicine," Olguín concludes.
