
In a study from the University of Southern California, scientists found a mutation in a newly discovered small protein is connected to a significant increase in the risk for Alzheimer’s disease.
This finding expands the known gene targets for the disease and presents a new potential avenue for treatment.
The protein, called SHMOOSE, is a tiny “microprotein” encoded by a newly discovered gene within the cell’s energy-producing mitochondria.
A mutation within this gene partially inactivates the SHMOOSE microprotein and is associated with a 20-50 % higher risk for Alzheimer’s disease across four different cohorts.
Nearly a quarter of people of European ancestry have the mutated version of the protein.
The researchers say that both the substantial risk and high prevalence of this previously unidentified mutation differentiate it from other proteins involved in Alzheimer’s disease.
Apart from APOE4—the most potent known genetic risk factor for the disease—only a limited number of other gene mutations have been identified and these only mildly increased risk by less than 10%.
Also, because the microprotein is approximately the size of the insulin peptide, it can be easily administered, which increases its therapeutic potential.
The team says this discovery opens exciting new directions for developing precision medicine-based therapies for Alzheimer’s disease, focusing on SHMOOSE as a target area.
Administration of SHMOOSE analogs in individuals who carry the mutation and produce the mutant protein may prove to have benefits in neurodegenerative and other diseases of aging.
The findings highlight the importance of the relatively new field of microproteins.
For decades, scientists have studied biology mostly by considering a set of 20,000 large protein-coding genes.
However, new technology has highlighted hundreds of thousands of potential genes that encode smaller microproteins.
If you care about Alzheimer’s, please read studies about the root cause of cognitive decline in Alzheimer’s, and 5 steps to protect against Alzheimer’s and Dementia.
For more information about brain health, please see recent studies that herb rosemary could help fight COVID-19, Alzheimer’s disease, and results showing these antioxidants could help reduce the risk of dementia.
The study was conducted by Pinchas Cohen et al and published in the journal Molecular Psychiatry.
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