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Genetic Disorder Inspires Possible Alzheimer’s Treatment

Genetic Disorder Inspires Possible Alzheimer’s Treatment

Managing Editor

A man with a rare genetic disorder has helped scientists discover a potential new way to combat the effects of Alzheimer’s disease, according to The New York Times and CBS News.

The 40-year-old man—whose name was not released in order to protect his privacy—has a condition called dysbetalipoproteinemia (try pronouncing that out loud). As a result of his disorder, he experiences multiple health issues.

But what struck doctors most when the man was treated at the University of California in San Francisco, was that the patient was missing a common gene called APOE.

The APOE gene creates the protein Apolipoprotein E, which helps to move cholesterol through the body. APOE has several variants, one of which, APOE4, causes the biggest genetic risk for the most common form of Alzheimer’s disease.

This is because a protein created by APOE4 slows down the clearing of amyloid plaques in the brain.

When and if the plaques build up, it leads to the “clumping” that is commonly associated with Alzhiemer’s.

For some time now, scientists and dementia experts have been exploring ways to temper the effects of the APOE gene, in hopes that they can prevent the clumping in the first place.

Lacking the APOE gene didn’t seem to have hurt the man’s brain, and his cognitive function was found to be normal. Scientists at the University of California studied the main’s brain closely, and their findings were published online earlier this week in the journal JAMA Neurology.

According to The New York Times:

They ran a battery of tests, including cognitive assessments, brain imaging and cerebrospinal fluid analyses. The man’s levels of beta-amyloid and tau proteins, which are markers of Alzheimer’s, gave no indication of neurological disease. His brain size was unaffected, and the white matter was healthy. His thinking and memory skills were generally normal.

This discovery showed scientists that it might be possible to prevent Alzheimer’s by reducing or eliminating the effects of the APOE4 gene, without causing other cognitive problems. The study’s co-author, Dr. Mary Malloy, told CBS News that other proteins can perform the function of the APOE protein.

One caveat to the research was that the brain being studied was younger than the brains of many of those with Alzheimer’s disease. Another was that the man being studied did have harmfully high levels of cholesterol in his body. Dr. Joachim Herz, who wrote a commentary published with the study told CBS News:

“The main potential side effect of reducing apoE would be the effect on cholesterol and triglyceride levels. This patient had extremely high levels of both—something we would have to avoid when treating patients. It would obviously not be beneficial to reduce the risk for Alzheimer’s disease if in the process we increase the risk for cardiovascular disease.” 


For more information, read the full stories at The New York Times and CBS News.

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Megan Jones

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