A study led by the Ace Alzheimer Center Barcelona has identified the NFASC gene as a «possible key» in the origin of progressive supranuclear palsy (PSP), a rare neurodegenerative disease.
The work, published in the ‘European Journal of Human Genetics’, has also confirmed the association of eight genes previously linked to PSP and opens avenues to improve its clinical diagnosis, as reported by Ace Alzheimer in a statement this Monday.
PSP, caused by the abnormal accumulation of tau protein in the brain, results in damage to neurons and the progressive deterioration of motor and cognitive functions, such as balance, eye movements, cognition, and behavior in those affected.
Now, researchers point to the NFASC gene as a new risk factor for the disease: it is a gene that encodes proteins essential for communication and protection of nerve cells in the brain.
Specifically, these proteins are involved in the formation of myelin sheath, a layer that surrounds neuronal projections responsible for transmitting information and facilitates the rapid transmission of electrical signals.
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The detection of this gene as a new risk factor in the development of PSP opens the door to future therapies aimed at improving communication between cells in the nervous system.
Furthermore, this discovery suggests that PSP may not be exclusively a neuronal disease, but it could also be related to dysfunctions in other brain cells, such as oligodendrocytes.
In addition to the new gene, the study has replicated and confirmed the association of eight other genes previously linked to PSP, thus consolidating the genetic map of the disease.