It is not as scary as Alzheimer’s, but it is a disease with which to live is not easy: Parkinson’s disease (April 11 is World Day) affects about 300,000 people in Italy (mainly males, 1.5 times more than women): their neurons undergo progressive neurodegeneration due to a drop in dopamine levels in a brain area called the “substantia nigra”. Hence symptoms such as tremor in movements, muscle stiffness, loss of balance.
Parkinson’s usually affects people aged 65 and over, but early cases are also growing (especially due to an increase in diagnoses), in which symptoms appear around the age of 40 or even around 30.
It can be cured. Today, treatments include several drugs (levodopa-based, dopamine agonists, MAO-B and COMT inhibitors), in some cases deep brain stimulation with surgery. They are therapies that help and reduce symptoms, but do not stop the progression of the disease.
For something that proves to be decisive, something else is needed: personalized medicine for the individual patient, and not standardized for all patients, as is the case now. The Humanitas Research Foundation is working towards this goal, thanks to the studies conducted by the team of Alberto Albanese, head of Neurology at the Humanitas Clinical Institute and Humanitas University professor. The focus is on identifying genetic characteristics peculiar to Parkinson’s, and on the basis of these to develop “precision” therapies.
Because if it is true that the disease is multifactorial, DNA often counts a lot: up to 15 percent of cases a determining role is played by some “strong” genes, that is, able to initiate the chain of neurodegenerative events (it is typical in early Parkinson’s); in other cases, there are “weak” genes which, mixed with environmental factors, increase the risk without causing it in a deterministic way.
“These are genetic mutations that can be inherited from parents, or that occur when a new individual is formed,” explains Albanese. “In any case, the mechanisms of the disease are the same: nerve cells struggle to dispose of proteins and a sort of energy crisis occurs in the cellular mitochondria (the energy factories, ed). Neurons with a more delicate metabolism, those in the “black substance”, are the first to suffer. The synergy between these two mechanisms, which strengthen each other, triggers a vicious circle that makes the evolution of Parkinson’s very fast ».
The drugs currently available, as mentioned, alleviate the symptoms and ensure a better quality of life for patients, and a better future, but they are not decisive. “Symptomatic therapy is like using a crutch when you sprain an ankle,” explains Albanese. “The foot gets less tired, but the cause is not removed.” For a care that makes the difference, “sartorial”, we need to go into more detail.
«At Humanitas, a first line of research envisages interfering with the accumulation mechanism of those proteins that damage neurons» explains Albanese. “A second goal is to eliminate them with monoclonal antibodies. It is a project that started five years ago, which goes in parallel with the genetic analysis of patients, and with the clinical evaluation of symptoms and their cognitive abilities ».
A concrete example to conclude: in the future, in the presence of a DNA that “predisposes” to the risk of Parkinson’s, intervening on environmental factors – pesticides, metals, chemicals, lifestyle, diet, smoking – will allow for prevention. While the precise knowledge of the genes involved will allow us to offer targeted and therefore more effective therapies.
Listen to the Silver DropsThey are called Gocce d’Argento and are the podcasts dedicated to the elderly, available online within Argento Vivo, the project wanted by the Humanitas Foundation for Research. To tell them is Lucilla Giagnoni, artist already interpreter of the songs of Divine Comedy. The theme: the studies conducted on health after the age of 65 (on the cardiovascular, motor, auditory and neurological systems). The path is divided into 8 episodes: Memory, Sounds, Movements, Harmonies, Heart, Brain, Sight, Argento Vivo. An evocative journey along the transformations of organs as time passes, and on the progress of research to combat ailments and diseases. All podcasts (with the scientific contribution of Humanitas) can be found on the argentovivo.fondazionehumanitasricerca.it website, on Spreaker and Spotify.