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Abnormal Protein Buildup Links People to Dementia

Dana Larsen
By Dana LarsenMay 8, 2012
abnormal protein buildup linked to dementia on brain scan

New frontotemporal degeneration studies at the University of California, San Francisco are linking abnormal protein buildup to dementia. According to scientists, genes play a role in about 40 percent of dementia sufferers, but at least half of the dementia cases have been sporadic onset.

Dementia research is progressing. University of California, San Francisco scientists have discovered a genetic marker for a brain disease that can turn lives upside down and make loved ones forget their spouses, children, parents and life memories. That’s right—we’re talking about dementia. Dementia sufferers’ brains actually start to deteriorate once the disease progresses and—for the first time—an abnormal protein buildup is being labeled the culprit.

What Exactly Are These Abnormal Protein Buildups?

U of C scientists think that abnormal protein deposits inside brain cells cause “frontotemporal degeneration.” And while the proteins vary, they do not include amyloid, a substance found in Alzheimer’s patients. Approximately 40% of the patients have an abnormal form of protein, called “tau,” which normally gives structural support to brain cells. The other types of abnormal protein buildups are involved in other cell functions. In about half of the patients suffering from frontotemporal dementia, the protein is called TDP-43, and in about 10% the buildup substance is called FUS.

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And why do these protein deposits form? Unfortunately the answer is still unknown, in most instances. Half of all cases are sporadic—they happen to people with no family history or genetic predisposition. But about 40% of patients do have a family history or “identifiable genetic mutation.” The remaining 10% have an identifiable inherited gene that makes the disease inevitable.

According to the study, “A dominant gene makes the symptoms inevitable, sometimes as early in life as the 30s or 40s, in anyone who inherits a copy from an affected parent. And each child of an affected parent has a 50-50 chance of inheriting the bad gene.”

Treatments, Progress and Dementia Going Forward

There are a number of drugs currently being tested. Among them, drugs that are being used to increase progranulin (a protein that appears to be linked to the buildup of TDP-43) or prevent tau buildup may help people with Alzheimer’s disease, according to Dr. Bruce L. Miller, a professor of neurology and psychiatry at University of California, San Francisco. But tests have shown that increasing progranulin can be risky as high levels increase the risk of cancer.

Other drugs, that are not yet approved, are still being tested. Ideally, the drugs that are currently being tested can help two groups of patients:

  1. Patients who already suffer from dementia symptoms.
  2. Patients at risk for developing the disease.

What are Possible Signs of the Onset of Dementia?

Interestingly, addictive behaviors have been associated with the onset of dementia.”What is so fascinating about this is, what do you define as ‘affected’ in somebody who carries a gene that is going to cause a slow, subtle social decline? What are good markers for someone who is starting to get sick?” Dr. Miller asked. “Addictive behaviors — drugs, alcohol, gambling — bad decision-making, alienation of other people around them. These are things that we never realized could represent the first symptoms of a degenerative disease.”

So if you notice a change in behavior for either yourself or a loved one that tends to be more addictive than is normal, you could be at risk for dementia. The good news is that scientists are at least aware of the abnormal protein buildup in the frontotemporal area of the brain that is causing this degenerative disease. Progress is being made and hopefully effective treatments will be available soon.

Dana Larsen
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Dana Larsen

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