For years, science has focused on identifying certain markers within the organism that allow warning of the possible development of a disease. Even more so when it comes to those called neurodegenerativelike Parkinson’s. Now, a study financed by the “Michael J Fox Foundation”, promoted by the renowned actor, detected the presence of a biomarker that would allow detect pathology even before symptoms develop.
“Scientists on our staff and advisory boards, including those who have led the Parkinson’s Progression Markers Initiative (LIPPfor its acronym in English) since 2010, have been happily surprised by the strength of the test to detect Parkinson’s at the molecular level, even before symptoms appear: its specificity and sensitivity, “said the actor during an editorial published in the american magazine stat. The foundation, which today bears his name and was born in 2000, was in response to his own reality, since in 1991, when he was 29 years old, he was diagnosed with Parkinson’s. As he himself explained, for 7 years he tried to hide the progress of the disease, but in 1998 he decided to make his ailment public.
According to the publication made in The Lancet Neurology“This study represents the largest analysis to date of α-synuclein SAA for the biochemical diagnosis of Parkinson’s disease. In short, it is a protein that, misfolded, makes it possible to warn that a person is being affected or may develop this pathology.
“Our results show that the assay classifies people with Parkinson’s disease with high sensitivity and specificity”, the experts state in the published scientific work and warn that it “provides information on molecular heterogeneity and detects prodromal individuals before diagnosis”. In other words, it identifies those who will end up developing the disease.
In the same sense, when announcing this progress, from the actor foundation detailed that “the tool, called the α-synuclein seed amplification assay (αSyn-SAA), can detect pathology in the cerebrospinal fluid not only of people diagnosed with Parkinson’s, but also in people who have not yet been diagnosed or who have not shown clinical symptoms of the disease, but are at high risk of developing it”.
Moreover, as they detailed, “the presence of abnormal alpha-synuclein, detected in the majority of people with PD, shows amazing precision: 93% of people with Parkinson’s who participated in the trial were shown to have alpha-synuclein.” abnormal”. “We have never before been able to see in a living person whether they have this biological change of alpha-synuclein in their body,” said Todd Sherer, initiative director for the Michael J. Fox Foundation (MJFF).
In the words of the experts, this protein is normally found in the nervous system but, as occurs with Tau in Alzheimer’s, alpha-synuclein “can begin to fold and accumulate, damaging neurons and leading to the development of Parkinson’s disease”. “His advent heralds the arrival of the biological age of disease. But it’s also an order-of-magnitude improvement in what Parkinson’s patients can expect from therapeutic development and, going forward, from clinical care.” The actor was hopeful in the letter that he spread.
In order to detect this biomarker, the PPMI initiative took its first steps in small independent studies. However, in 2022, when the assay was validated, it became the “largest assay to date of α-synuclein SAA for the biochemical diagnosis of Parkinson’s disease” as it was tested for “sensitivity and specificity of SAA α-synuclein in participants with Parkinson’s disease and healthy controls, including subgroups based on genetics and clinical features.
In total, between July 7, 2010 and July 4, 2019, 1,123 cerebrospinal fluid samples provided by PPMI participants were analyzed, obtained from 33 participating academic neurology outpatient practices around the world: in Austria, Canada, France, Germany, Greece, Israel, Italy, the Netherlands, Norway, Spain, the United Kingdom, and the United States. While, in parallel, also Other control groups were analyzed: healthy and at risk of developing the pathology.
Of the total participants, “545 had Parkinson’s disease, 163 were healthy people with no evidence of Parkinson’s disease, 54 had evidence of the disease on brain scans, 51 were in the early stages of the disease, and 310 had genetic mutations. that should cause Parkinson’s disease, but hadn’t.” According to the data issued by the foundation, this technique to detect early Parkinson’s identified “the disease 87% of the time”, while in healthy volunteers “the test showed the absence of the disease 96% of the time”.
“This is the great reward. This is the big trophy”, Fox pointed out in his writing. “I am involved in the work of the foundation in many different ways, but I came to this breakthrough first and foremost as a patienthe continued, adding: “I feel like I’m in a unique position, I ran the ship, but I have no idea how the deck works.”
“Many patients were eager to volunteer, only to be told their disease was too advanced. But many family members signed up to be in the control group, a great sacrifice, given that the study involved periodic lumbar punctures to check the level of alpha-synuclein in the cerebrospinal fluid”, they indicated from the Foundation.
But all the sacrifice, both patients and relatives, showed convincing results. “The assay proved surprisingly accurate., as 93% of participants with Parkinson’s had an abnormal test. (Very few tests for neurological disorders have a sensitivity greater than 90% for the disease.) And, what is more important, the test was abnormal in less than 5% of people without Parkinson’s”, they explained from the Foundation.
Until now, the only way the protein alpha-synuclein can be detected is through a lumbar puncture, “a difficult and uncomfortable procedure”, they admitted from the foundation, although the experts who are part of this work estimate that, in the near future, it can be identified through a blood sample, a skin biopsy or even a nasal swab. . “It’s a game changer in Parkinson’s disease diagnostic, research and treatment trials,” Fox said.
In the actor’s words, this initiative “is a $500 million dollar effort carried out in association with the Aligning Science Across Parkinson’s initiative. It is supported by over a dozen philanthropic donors, a consortium of 40 biotech and pharmaceutical companies and tens of thousands of individual donors, and nearly 2,000 participants at 51 clinical sites around the world.” Even the data obtained by the scientists who are part of this program are “open” and “are downloaded by researchers around the world an average of 2,200 times a day to accelerate knowledge changes in the biology of Parkinson’s.”
“As colossal as it is, the Parkinson’s Progression Markers Initiative is just one of many things we do at the foundation, and we will continue to do so until we get to a cure for Parkinson’s. Maybe it’s just my perennial optimism, but in the glow of our great leap forward I feel especially positive. Preparing for the century of biology is hard work, but we can do it. After all, if not us, then who?”, concluded the actor.
According to World Health Organization (WHO)“the Parkinson’s disease it is a degenerative condition of the brain associated with motor symptoms and other complications, such as cognitive impairment and sensory disturbances”. It is the most common pathology of the movement disorders and the second most common neurodegenerative diseaseafter Alzheimer’s.
Since, up to now, it is not possible to make a presymptomatic diagnosis of the disease, the early detection of Parkinson’s is essential. The treatments that today can be performed on patients suffering from the disease make it possible for them, even if they are not curative, to develop the best possible quality of life and work towards trying to reduce the level of cognitive deterioration, treating the symptoms.
The truth is that worldwide, according to the WHO, “disability and deaths due to Parkinson’s disease are increasing faster than those of any other neurological disorder”, being that the prevalence of the disease has doubled in the last 25 years. According to estimates, the The incidence of this pathology is 21 to 25 cases per 100,000 inhabitants..
Despite the fact that it is the first association that has been made, experts warn that the tremors They are not the only type of manifestation through which the disease can present itself. There are other signs that allow warning of the manifestation of the pathology, so it should be be alert and consult a professional. Some of the main symptoms and signs that can manifest are: slow movements and difficulty initiating them, tremor at rest, muscle rigidity, postural instability, among others. The presence of this pathology can even be noticed when there is evidence of a decrease in the size of the writing, sleep disorders and increased saliva. In any case, they made it clear that the development and evolution of Parkinson’s varies according to each patient.
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