A genetic mutation can block the activity of a microprotein, which increases the risk of Alzheimer’s disease.
- 900,000 people suffer from Alzheimer’s disease in France.
- Between 1.2 and 2% of cases are hereditary.
- Between 1.2 and 2% of cases are hereditary.
- The main risk factor is age: the disease is rare before the age of 65.
Research into the causes of Alzheimer’s disease is progressing. In the specialist journal Molecular psychiatry, a study shows that a protein would be associated with an increased risk of developing the disease. Called SHMOOSE, this “microprotein” is encoded by a particular gene, present in the mitochondria of cells. When this gene has a genetic mutation, the microprotein is inactivated. This phenomenon would be responsible for the increased risk of Alzheimer’s. “The microprotein appears to alter energy signaling and metabolism in the central nervous system”note the authors.
Dementia: a widespread genetic mutation in Europe
According to the authors of the study, researchers from the University of Southern California, the genetic mutation is associated with a 20 to 50% increased risk of suffering from this pathology. However, nearly a quarter of Europeans are carriers. “The substantial risk and high prevalence of this previously unidentified mutation differentiates it from other proteins implicated in Alzheimer’s disease.”, they point out. Apart from APOE4, the strongest genetic risk factor for Alzheimer’s, a small number of genetic mutations implicated in the disease have been identified. According to Californian scientists, they only slightly increase the risk, on average by less than 10%.
Therapeutic avenues for Alzheimer’s disease
“This discovery opens new avenues for the development of precision medicine-based therapies for Alzheimer’s disease, focusing on the SHMOOSE as a target.”, says Pinchas Cohen, professor of gerontology and lead author of the study. Because this microprotein is small in size, scientists believe it could easily be given to people with the genetic mutation. “Administration of SHMOOSE equivalents to people who carry the mutation and produce the mutant protein may prove beneficial in neurodegenerative and age-related diseases“, adds the specialist.
How to treat Alzheimer’s disease?
This discovery could therefore improve the management of Alzheimer’s disease. For the time being, there is no curative treatment, but “appropriate care can slow its progression and improve the life of the patient and those around him”Explain Inserm. It goes through drug treatments, but also through changes in lifestyle and activities, and through consultations dedicated to sensory disorders. “Different solutions exist, from home care to reception in an establishment, there is a device adapted to each stage of the disease.indicates the Ministry of Health.