In the final scene of the Oscar-winning film The Father, 80-year-old Anthony, who suffers from dementia, cries like a small child in the nurse’s arms, looking for his mother. Freed from any awareness of his condition, he surrenders himself completely to decay, giving the viewer an understanding of what dementia ultimately means.
Some have likened it to an epidemic, and they are not wrong, as experts expect cases to reach 139 million worldwide by 2050, while according to the World Health Organization, the cost of dementia will reach 3 trillion dollars in five years. At the same time, the scientific community seems to be getting closer to the early diagnosis of the disease, as a study by researchers at Fudan University in Shanghai published a few days ago in the scientific journal “Nature Aging” showed that a blood test can predict the dementia up to 15 years before the onset of symptoms with almost 90% accuracy.
THE Jia Wuone of the leaders of the research, who specializes in the discovery of biomarkers and predictive modeling of brain diseases with the help of algorithms and artificial intelligence, talks to “Step” about the importance of this test in screening, highlights the role of genes and other factors in the occurrence of the disease and refers to the future of biodiagnostics.
Your research has shown that dementia could be predicted up to 15 years before its onset with a blood test. What is the significance of this discovery in clinical practice and when do you expect it to become a reality in daily medical practice?
“Patients often seek medical help when they are in the last stage of the disease or a step before it. That is, when their memory and cognitive functions have already been significantly affected. For a long time the disease does not give symptoms and the patients behave normally. In an effort to prevent such situations, we developed a blood test that predicts up to 15 years in advance whether someone will develop the disease. Our goal is to find people at high risk of developing the disease in time. I estimate that in the near future the exam will be widely available, perhaps even two years from now. We are currently trying to negotiate its price with various companies. This is an exam that costs around 250 euros and is not affordable for most people. We want it to be widely applied to the population.”
What are the key features of your discovery?
“Essentially we studied on a large scale proteins, which of course are produced according to the coded information present in the genome of each organism. This approach is called proteomics. We have already developed the necessary algorithm and now our efforts are focused on perfecting the special blood test that will detect the special proteins in the blood. Our technique is based on the identification of proteins associated with all types of dementia, the proteins GFAP, NEFL, GDF15 and LTBP2. The GFAP protein in particular was found to be the ideal biomarker for the prognosis of dementia up to 15 years ago. By the term biomarker we mean measurable indicators that detect disturbances in the normal functioning of the body”.
Beyond age, what risk factors or other diseases affect the onset of dementia?
“Genetic factors play a particularly important role. A carrier of the APOE4 gene has a four to eight times higher risk of developing dementia compared to someone who does not have it. Also, family history plays a role. However, there are also modifiable risk factors such as physical activity, obesity, smoking, diet, educational level, social and intellectual activities. Poverty and deprivation are also linked to the onset of dementia. Finally, head injuries can be a serious risk factor for dementia. This subcategory of dementia is called vascular dementia.”
Does the climate crisis play a role?
“In recent years there has been significant scientific evidence linking toxic substances present in the atmosphere to the onset of dementia. More specifically, air pollution from engine exhaust and fires is linked to the disease. However, this risk can also be modified if the person seeks a place to stay with fresh air.”
What is the contribution of artificial intelligence in your field?
“We used artificial intelligence methods to identify proteins associated with dementia and check whether they are also associated with other neurodegenerative brain diseases or mental illnesses. Through special algorithms, we identified those that are exclusively associated with dementia.”
Recently there is talk of treating dementia with monoclonal antibodies.
“Yes, these are two drugs that have already been approved by the US Federal Food and Drug Administration (FDA). There is one more promising one that is currently unlicensed. In general, there is not enough scientific data from clinical studies about when it will be most effective to give these drugs. It is worth mentioning, however, that they have serious side effects and require frequent brain MRI scans.”
Are there other reliable predictive biomarkers for Alzheimer’s screening that could confirm the results of the test you developed?
“Yes, we are trying to use another approach called multi-omics, which refers to the biological analysis of various genetic data (called omic levels) in order to identify coherent relationships or correlations between them and create disease biomarkers. This approach is different from the proteomics we used for our study. I believe that in the future we will be able to simultaneously use imaging, metabolic and other biomarkers that will allow us to study diseases from multiple perspectives. Note, multi-omics and proteomics represent the future of biodiagnostics.”
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