Multiple sclerosis (MS) is a neurological disease that mainly affects women between the ages of 20 and 40 and which progresses silently. Typically, once diagnosed, it has already significantly affected the brain, compromising functions such as vision and the ability to control movements.
Available treatments are capable of reducing or even completely stopping the progression of the disease, but to maintain the quality of life of patients, it is necessary to start therapeutic approaches as early as possible. This is why tools to accelerate diagnosis or predict disease progression are essential.
And science has worked in this direction. In a recent discovery, published in October in the journal Nature Medicine, researchers at the University of California, San Francisco, US, listed biomarkers that can be found in the blood up to seven years before the first attack of multiple sclerosis.
The disease begins to damage nerve fibers well before this first episode. The brain is attacked by “waves” of ongoing inflammation, which can also be acute during flare-ups. “Even before the peaks of inflammation, we have patients with altered primary brain functions, but often without associating the symptoms with the disease. They experience mental and physical fatigue, depression, anxiety, irritability, non-specific signs, but which can be better understood as we deepen our diagnostic tools”, explains neurologist Rodrigo Barbosa Thomaz, coordinator of the Center of Excellence in Multiple Sclerosis and Demyelinating Diseases of Einstein Israelita Hospital.
The idea was to determine 21 biomarkers that, although not exclusive to people with multiple sclerosis, together contribute to clarifying the diagnosis of the disease and even evaluating the effectiveness of treatments. The markers were defined after examining more than 5,000 proteins collected in blood samples from 134 U.S. Army volunteers who were followed for more than a decade and later developed the disease.
Research suggests that years before the first sensitive symptoms or even before the first lesions visible on MRI, it is already possible to highlight multiple sclerosis signaling proteins. According to the study, the oldest of these is myelin oligodendrocyte glycoprotein (MOG), which appears up to seven years before symptoms. This indicates the first damage to the neuronal filaments.
Almost simultaneously, there is an increase in the IL-3 protein, which recruits defense cells to attack the brain and spinal cord. On average, a year after this process, it is possible to identify neurofilament light chain (NfL) in the blood, which indicates direct damage to neuronal tissue. These results form the basis of a possible blood test that could identify markers of this type of sclerosis at preclinical stages.
According to Thomaz, this type of marker can transform clinical routine. “Today we identify the progression of the disease from symptoms and imaging studies. But in areas already attacked, that is to say within brain lesions, MRI is not always able to show what is happening. Biomarkers like these allow us to measure these invisible processes on imaging studies, helping to understand whether there is a risk of progression and whether the treatment is really controlling the inflammation,” he observes.
However, it is worth remembering that not all markers of inflammation are exclusive to multiple sclerosis. “Neurofilament, for example, also changes in other neurological conditions,” emphasizes Rodrigo Thomaz. The clinical context and other examinations therefore remain essential to the diagnosis. “The evaluation of multiple markers, combined with artificial intelligence algorithms, tends to personalize care. This can indicate who is at greatest risk of progression, after-effects and who can avoid epidemics if treated early,” explains the doctor.
What is multiple sclerosis?
It is an autoimmune and demyelinating disease, meaning it causes the body’s defense cells to attack the myelin sheath, the structure responsible for accelerating communication between neurons. “This myelin is distributed in the brain and is essential for the speed of nerve responses,” explains the Einstein specialist.
Although myelin is capable of regenerating itself, the disease also has mechanisms to prevent this process. So, without treatment, vision, touch and mobility are seriously affected by multiple sclerosis. Symptoms range from a slight loss of sensitivity to difficulty seeing, walking, speaking or thinking.
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