Blood test could detect Parkinson’s

Genetic analysis of a blood sample could become an “effective” tool for early diagnosis of Parkinson’s diseaseaccording to a new exploratory study led by researchers from the Institute of Neurosciences (IN), a joint center of the Higher Council for Scientific Research (CSIC) and the Miguel Hernández University (UMH) of Elche.

Although it is not yet available for clinical use, the method has been tested in recently diagnosed patients and “opens the door to easier and earlier detection, as well as better monitoring of the disease,” as reported by the entity in a statement.

The results, published in the magazine Eurotherapeutics They are the result of the collaboration of researchers from the Translational Neuropsychopharmacology of neurological and psychiatric diseases laboratory, led by the UMH professor Jorge Manzanaresand of Laboratory of Cellular Plasticity and Neuropathologyboth in the IN; from the Alicante Health and Biomedical Research Institute (ISABIAL); from the Carlos III Health Institute and the 12 de Octubre Hospital in Madrid.

Parkinson’s disease It affects about 12 million people in the world. It is the second most common neurodegenerative disease and one of the main causes of neurological disability. One of the great challenges facing this disease is to advance its diagnosis, ideally before the most serious motor symptoms appear.

Currently, the diagnosis of the disease begins with a clinical examination when the most visible symptoms begin. “However, tremors appear when there is already advanced neurological damage and, in addition, they can be confused with those of other neurological diseases,” Manzanares explained.

“Until a few years ago, the only way to definitively diagnose the disease was through post-mortem tissue analysis,” the expert noted, “but it is crucial to have low-invasive and rapid methods that detect the disease earlier.”

More than twenty genes with altered activity

The method studied by experts only requires a blood draw. The analysis of the sample is carried out with equipment present in many hospital laboratories and allows the identification of genetic alterations associated with the disease in its initial stages. “The key is to analyze the gene expression of a type of immune system cells called peripheral blood mononuclear cells,” Professor Francisco Navarrete explainedfirst author of the article.

The expert indicates that, as happens in all cells, they contain genetic information, but not all their genes are active all the time. Some genes are turned on or off depending on the body’s needs, for example, in response to an infection or the development of a disease.

Using sequencing techniques and bioinformatic analysis, the team identified more than twenty genes whose activity was altered in patients with Parkinson’s disease who had not yet received pharmacological treatment. “These changes are not observed in healthy patients,” Marina Guillot has highlightedpredoctoral researcher who has led the gene expression analyzes together with CSIC senior scientist José P. López-Atalaya.

“This indicates that they could be considered good markers for diagnosis, and also provide us with clues about the biological mechanisms that occur during the development and progress of the disease,” he added.

Specifically, the researchers have identified 22 genes which are expressed differently in patients with Parkinson’s disease and healthy people. Some of these genes are involved in immune responses, reinforcing the hypothesis that inflammation and the immune system play a role in the development of the disease.

Other genes are related to substance transport mechanisms in brain tissue and iron homeostasis, the dysfunction of which has previously been linked to neurotoxicity. In addition to changes in gene expression, the researchers detected alterations in cellular pathways linked to survival, inflammation, cell death, and immune cell composition.

“We still do not know in detail how Parkinson’s disease appears and progresses, and current treatments have limited effects,” stressed Manzanares, who hopes that these analyzes will contribute in the future to designing “more effective and personalized” therapies.

The study, of an exploratory nature, was carried out with 23 patients with Parkinson’s disease and 16 healthy people as a control group. Despite the small sample size, the researchers have compared their results with other independent studies carried out in the last decade in Italy and the United States that confirm the potential of this diagnostic method.

The research has been possible thanks to funding from the ICAR Foundation; ISABIAL; the Ministry of Education, Vocational Training and Sports; the Tatiana Pérez de Guzmán el Bueno Foundation; the State Investigation Agency; the Generalitat Valenciana through the Prometeo program and the Ministry of Science, Innovation and Universities.