Thanks to advanced molecular genetic techniques, an all-Italian-led research group has identified another gene that can lead to Alzheimer’s disease. A new piece is therefore added to the complicated picture of this terrible neurodegenerative disease, which could one day lead to targeted therapies (but the road is long)
Among the many factors that can trigger the Alzheimer’s disease there is another gene, identified as potentially responsible for the first time: the discovery, entirely Italian, was led byUniversity of Turin and fromMolinette Hospital of the same Piedmontese capital, and could one day lead to targeted therapies (but the road is long).
The results were obtained thanks to advanced molecular genetic techniques and they identified in Grin2c one of the genes potentially responsible for triggering this serious neurodegenerative disease.
Alzheimer’s disease
As our Higher Institute of Health explainsThe Alzheimer’s disease it is a neurodegenerative pathology that manifests a sneaky start: People, at first, begin to forget some things, and often these first symptoms are not recognized as indicative of its onset.
Only later does everything become clearer, to reach the point where the sick can no longer not even recognize family members and they need help with even the simplest daily tasks.
The disease today affects approximately 5% of people over 60 years of age and in Italy this is estimated at approximately 500 thousand sick. It is the most common form of senile dementiawhich implies serious difficulties for the patient in carrying out normal daily activities.
In particular, this affects memory and cognitive functions, affects the ability to speak and think but can also cause other problems, including states of confusion, mood changes and space-time disorientation.
The precedents
There is now a lot of research on this terrible disease which disrupts the lives of affected patients and their families. Such research seeks to investigate early symptoms as well as trigger and progression mechanisms, and rare mutations in the Psen1, Psen2 and App genes had already been identified as a possible cause, mainly in pre-senile age. But unfortunately, to date, it does not exist no therapy that can regress, nor stop, its advancement.
Among the most recent ones, we remember that of CUNY Graduate Center Of New York (USA)which revealed a critical linking mechanism cellular stress in the brain to the progression of Alzheimer’s disease (AD), discovering that the microgliathe brain’s main immune cells, can either stop or worsen the progression of Alzheimer’s disease (depends on the type).
In other words, some populations of microglia are helpful, others are trigger worsening mechanismsaccelerating the progress of cellular degeneration. This research aimed precisely at understanding the functional differences between these populations.
The all-Italian studio
Researchers have now discovered that the Grin2C gene can also be a probably very rare cause of disease. But in reality there is another aspect that perhaps makes the research even more interesting.
(…) the most significant aspect of the research is the confirmation of the role that the mechanisms of Glutamate-related excitotoxicity can have in the development of the disease – Innocenzo Rainero, who led the work, explains to ANSA – When glutamate interacts with the Nmda receptor on neurons, a channel opens which promotes the entry of calcium ions. And, if this stimulation is excessive, it causes aintense excitation of the neuron leading to cell death
This discovery, according to scientists, would be related to the depressive mood disorder that patients carrying the mutation develop years before the onset of the cognitive deficit.
But above all it is important to develop new drugs capable of reduce cerebral excitotoxicity from glutamatein order to slow down the progression of the pathology.
The work, however, has some drawbacks limits.
First of all, the diagnosis of Alzheimer’s disease in the sample examined has not yet been confirmed by pathological examination – the researchers write – However, it was made using NIA-AA Research Framework criteriawhich have been shown to have a significant correlation with pathological confirmation in previous studies
But above all, work needs to be expanded.
It is important to note that this study was conducted in a single family and, therefore, the observed pathogenic variant can currently only be classified as specific to this family. I am further research is needed to determine the prevalence of genetic variants in the Grinc2C gene in late-onset Alzheimer’s disease
The work was published on Alzheimer’s Research & Therapy.
Sources: Ansa / Alzheimer’s Research & Therapy
