A Rare Condition Offers Hope for Alzheimers


A man’s rare medical condition, known as dysbetalipoproteinemia, is offering researchers new hope for a potential cure for Alzheimers. While his condition is not related to any neurocognitive function, his body, however, is lacking a protein that is instrumental in perpetuating conditions of dementia.

It is commonly known that a mutation of the apoE4 protein increases the chances of developing memory-loss conditions. There have been researchers who have wondered how the brain would be affected if this protein were removed. While dysbetalipoproteinemia is not related to any neurological disorder, it is, however, of interest to scientists because the patient lacks the apoE4 protein. It gives researchers a rare opportunity to perform a full spectrum of tests to study effects that the total absence of apoE4 has on neurological functions.

A full sequencing of the patient’s DNA was performed as well as complete neurological and visual testing. An all inclusive lipoprotein analysis was also conducted at the University of California’s Cardiovascular Research Institute at San Francisco.

Tests concluded that, despite the absence of apoE4, the patient had normal vision as well as normal retinal, neurological and cognitive functions. There were also no symptoms of cardiovascular disease. He did, however, have high levels of cholesterol with an above normal cholesterol to triglyceride ratio.

ApoE4 removes certain types of proteins from the brain, and a common mutation of apoE4 is found in 25 to 30 percent of all Alzheimers patients. Eliminating apoE4 could be a breakthrough in treating the disease. Studies with animals have indicated this method might work.

The study concluded that the patient’s rare condition offers hope for all Alzheimers sufferers. Despite the absence of apoE4, there were no negative effects in the patient’s retinal and neurocognitive functions. It suggests that apoE4 functions are either not vital to bodily operations or that there is a built-in redundancy that satisfies the need for the protein.

While there is no known cure for Alzheimers or dementia, current treatment does slow down the disease’s progression. Depending on the severity of the disease, patients are commonly treated with cholinesterase inhibitors, NMDA receptor antagonists and vitamin E.

The inhibitors prevent the breakdown of brain chemicals instrumental in memory and thinking processes. Half of the patients using theses medications see a fair amount of improvement in cognitive functions. NMDA medications are new and primarily used for moderate to severe cases. They provide a chemical environment that allows the processing and storing of information. Vitamin E helps the brain to defend itself against certain molecules that contribute to the progression of Alzheimers.

Research has also been done on dietary and exercise regimen designed as a preventative measure to dementia. A healthy diet that is free of saturated and trans fats and supplemented with proper vitamins will help prevent the disease. Exercising three times a week for 40 minutes should also be included in the regimen.

It is estimated that 5.1 million Americans have Alzheimers disease. As the population continues to age, that number will increase as well. Once diagnosed, an individual is likely to live from eight to ten years. This long-term progression of the disease affects the quality of life issues for caregivers and patients alike.

As the baby boom generation continues to age, neurocognitive impairments will become more prevalent. The rare condition of dysbetalipoproteinemia is offering some hope for Alzheimers sufferers. Testing is continuing as scientists are working on a remedy to lower apoE4 in patients.

By Hans Benes


Everyday Health
Everyday Health
Jama Neurology

One Response to "A Rare Condition Offers Hope for Alzheimers"

  1. Tabitha Farrar   August 22, 2014 at 9:41 am

    This is really hopeful! Misfortune used find a benefit. Thank you for providing links back to the original paper as I love to geek out on this stuff!

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