Scientists identify mutated protein linked to Alzheimer’s disease risk

Story at a glance


  •  Alzheimer’s disease affects 5 million people in the U.S., according to data from 2020.

  • Researchers are working to understand the various risk factors that may contribute to developing the disease. 

  • Researchers examined the role of a newly identified microprotein in neuronal mitochondria.

New research is uncovering the role a specific protein might play in developing Alzheimer’s, a disease that affects 5 million people in the U.S., according to estimates from 2020. 

In a study published today in Molecular Psychiatry, researchers identified a new gene from mitochondrial DNA that encodes for a “microprotein,” named SHMOOSE. They analyzed the default and mutated versions of this small protein and found that the mutated version is associated with increased risk of Alzheimer’s disease, brain atrophy and changes in energy metabolism. 

The recent discovery of SHMOOSE comes as some are questioning the validity of research on amyloids or plaques that form in the brain. 

The team thinks that SHMOOSE, which they found in the mitochondria of neurons, is important for energy signaling and metabolism in the central nervous system. Levels of the microprotein found in the cerebrospinal fluid correlated with other markers of Alzheimer’s disease. 

In an experiment, they administered SHMOOSE directly into a rat’s brain and found evidence that the protein was active in the hypothalamus, the part of the brain that produces hormones for body temperature, heart rate and hunger. Further experiments in the laboratory using cultured cells confirmed that the unmutated forms of the microprotein can affect mitochondrial metabolism. 

“This discovery opens exciting new directions for developing precision medicine-based therapies for Alzheimer’s disease, focusing on SHMOOSE as a target area,” says Pinchas Cohen, who is professor of gerontology, medicine and biological sciences and senior author of the study, in a press release. “Administration of SHMOOSE analogs in individuals who carry the mutation and produce the mutant protein may prove to have benefit in neurodegenerative and other diseases of aging.” 

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