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What’s Your Alzheimer's Risk? New Discovery Could Tell You

Early detection of Alzheimer's disease

Currently there are tests people can undergo to learn if they are likely to develop certain diseases, such as Huntington’s or breast cancer. A Spanish team has now discovered what may eventually prove to be a way to identify Alzheimer’s risk years before onset.

A new way to detect Alzheimer’s disease risk?

Currently there is no cure for Alzheimer’s nor a way to effectively stop or slow the disease, although some promising ways to help diagnose the disease quickly are in the works. What if, however, you could detect Alzheimer’s as early as possible, years before symptoms became evident?

Dr. Ramon Trullas, research professor at the CSIC Institute of Biomedical Research of Barcelona and the lead author of the new study, noted that he and his team identified a biomarker in cerebral spinal fluid (CSF) that “may enable us to search for more effective treatments that can be administered during the preclinical stage.”

What the team discovered was that a decline in the content of mitochondrial DNA (mtDNA) in cerebral spinal fluid may not only be an early (about a decade) indicator for Alzheimer’s disease, but also may be involved in its cause. Here’s what this discovery involves.

The mitochondria are structures in your cells that help produce energy. If you have low levels of mtDNA in your cerebral spinal fluid, it may indicate a reduced ability of the mitochondria to provide your brain cells with necessary energy, which in turn could cause them to die.

Until now, scientists had discovered that a decline in concentration of certain other factors, including amyloid beta-1, p-tau, and t-tau proteins, are biomarkers of Alzheimer’s disease. However, these indicators appear around the same time as symptoms, which does not give individuals much warning.

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The presence of a decline in mtDNA in cerebral spinal fluid, however, seems to occur a decade or more before these well-known indicators, which means mtDNA decline may be one of the earliest indicators for Alzheimer’s disease.

One benefit of working with mtDNA is that unlike protein detection, which is hampered by technical challenges, mtDNA is more easily quantified using qPCR, a version of a blood test called polymerase chain reaction. The qPCR test results were then validated using the QX100™ Droplet Digital™ PCR system.

Trullas explained that as the technology is made more widely available, it will be “the future of detecting mtDNA in cerebral spinal fluid.”

Other early detection attempts
At University College London, a team examined cerebral spinal fluid samples for levels of amyloid, which typically is low in people with Alzheimer’s disease. Using magnetic resonance imaging, the investigators found that the brains of people with low levels of amyloid shrank twice as fast as the brains of individuals who had higher levels of the protein.

A team at scientists from various institutions, including Cedars-Sinai Medical Center, have used an eye examination for early detection of Alzheimer’s. They found that plaque accumulates in the retina as well as the brain of people with Alzheimer’s but it can be seen earlier in the retina.

As scientists continue to search for ways to identify Alzheimer’s disease early, everyone should become familiar with the risk factors for the disease and adopt a healthy lifestyle, including eating a Mediterranean type diet, exercising regularly, and keeping your mind active. If researchers in other laboratories can replicate the findings of Trullas and his team, “the results will change the way we currently think about the causes of Alzheimer’s disease,” he noted.

Podlesniy P et al. Low CSF concentration of mitochondrial DNA in preclinical Alzheimer’s disease. Annals of Neurology 2013; doi:10.1002/1n1.23955

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