Scientists identify mutated protein linked to Alzheimer's disease risk – The Hill

Scientists identify mutated protein linked to Alzheimer’s disease risk – The Hill

The story at a glance


  • Alzheimer’s disease affects 5 million people in the United States, according to 2020 data.

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

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

New research reveals the role a specific protein may play in the development of Alzheimer’s disease, a disease that affects 5 million people in the United States, according to estimates from 2020.

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

The recent discovery of SHMOOSE comes as some question the validity of amyloid research or plaques that form in the brain.

The team believe 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 cerebrospinal fluid correlated with other markers of Alzheimer’s disease.

In one experiment, they administered SHMOOSE directly into the brain of a rat 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 laboratory experiments using cultured cells have confirmed that unmutated forms of the microprotein can affect mitochondrial metabolism.

“This discovery opens up exciting new directions for the development of precision medicine-based therapies for Alzheimer’s disease, focusing on SHMOOSE as a target area,” says Pinchas Cohen, Professor of Gerontology, Medicine and Science. biologics and lead author of the study, in a Press release. “The administration of SHMOOSE analogs to people who carry the mutation and produce the mutant protein may prove beneficial in neurodegenerative and other diseases of aging.”

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