Scientists Detect Gene Mutation That Could Raise Alzheimer's Risk

A gene mutation that raises the risk of Alzheimer's by up to 50 percent has been identified by scientists from a British database. It produces a tiny chemical, or microprotein, called SHMOOSE.

One in four people of European ancestry is a carrier, according to the study. The finding offers hope of a screening program, and an effective drug, says the research team.

The findings were published in the Molecular Psychiatry journal.

It's based on the brain scans of 18,330 members of the UK Biobank—a database containing in-depth genetic and health information from half a million Britons. A quarter of those surveyed had the variant. It affects neurons that control memory, emotions, and behavior.

"This discovery opens exciting new directions for developing precision medicine-based therapies for Alzheimer's disease, focusing on SHMOOSE as a target area," said senior author Professor Pinchas Cohen of the University of Southern California.

"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," Cohen added.

An analog is a drug having a structure similar to that of another compound, but differing in respect of a certain component.

Carriers also showed greater damage over age in medial temporal areas such as the parahippocampus, entorhinal cortex, and anterior and parietal cingulate cortex.

"The medial temporal cortex and parietal cingulate cortex are known to be vulnerable in Alzheimer's disease and the pathological damage likely appears years before clinical symptoms," said Cohen.

First author Dr. Brendan Miller said microproteins represent a fresh area of research. The findings highlight their importance. "The field of microproteins is still so new. We don't yet know how many microprotein genes are even functional and the cost to study a potential microprotein one-by-one from a list of thousands is just too expensive and inefficient," he said.

"The approach my colleagues and I used to detect SHMOOSE shows the power of integrating big genetics data with molecular and biochemical techniques to discover functional microproteins."

Dozens of genes are known to be involved in Alzheimer's disease—the most potent is named APOE4. Two copies increase a person's risk twelvefold. However, new technology has highlighted hundreds of thousands of potential genes that encode smaller microproteins.

"Mitochondrial-encoded microproteins are a potential part of Alzheimer's disease that have not been heavily studied," Cohen said.

Currently, they affect more than 940,000 people in the U.K., a figure that will reach 2 million within three decades. There is no cure. An effective drug is a "holy grail" of medical research.

The researchers are leaders in the study of microproteins, especially those coded within the mitochondrial genome.

Produced in association with SWNS Talker.

This story was provided to Newsweek by Zenger News.