Research Roundup: Genetic Protection from Alzheimer’s Disease, Football Players and Heart Health, and More

Research Roundup is a monthly recap of recent news from investigators at the Massachusetts General Hospital Research Institute.

Genetic Study Points to New Strategies to Delay the Onset of Alzheimer’s Disease

Some people who carry gene mutations known to cause early-onset Alzheimer’s disease (AD) do not show symptoms until a very old age. Studying these individuals may help to identify other gene variants that help to delay the onset of the disease.

In a new study, Mass General neuropsychologist and brain researcher Yakeel T. Quiroz, PhD, describes one such patient from a large extended family in Colombia that is genetically prone to early onset AD.

The woman has the genetic mutation that causes early-onset AD, but unlike most of her relatives—who developed signs of dementia in their forties—she did not show any signs of impairment until three decades later.

Imaging tests showed she had only minor neurodegeneration in her brain despite having unusually high levels of amyloid beta deposits, the hallmark of Alzheimer’s disease. The number of tau tangles—another key component of the disease—was more limited.

The researchers believe that carrying two copies of a genetic variant called ChristChurch helped to delay disease onset by limiting the more damaging effects of tau tangles and neurodegeneration that occur after the building up amyloid beta.

The results suggest that it may be possible to delay the onset of AD even in patients with significant buildups of amyloid, and that treatment success may not be contingent on reducing overall amyloid beta levels in the brain.

See additional coverage in the New York Times:

Why Some Football Players Have A Higher Cardiovascular Risk Than Other Athletes

While it’s understandable that most elite athletes have a lower risk of cardiovascular heath problems than the rest of us mere mortals, there are a subset of football players who don’t experience the same health benefits.

A new study led by Aaron Baggish, MD, found that most football players who play on the offensive and defensive line at a high level (college or professional) undergo forced weight gain during training that can cause high blood pressure, sleep apnea and the development of a thick, stiff heart and arteries later in life.

The results of the study suggest that introducing more aerobic conditioning to the training regimen for linemen could help to reduce this risk.

“When we’ve studied other populations of people who engage in aerobic activity, we see the exact opposite of what we see in this population,” Baggish says.

Mass General Specialists Perform First Application of Pig Skin to a Human Burn Wound

Burn specialists at Mass General have successfully used a live-cell, genetically engineered pig skin to temporarily close a burn wound in a human patient.

This is the first time that pig tissue derived from an animal with gene edits has been transplanted directly to a human wound.

The advance could help to alleviate the shortage of human cadaveric tissue that is typically used to temporary close large burn wounds to allow for the skin to heal.

The procedure took place as part of a clinical trial led by Jeremy Goverman, MD, of the MGH Sumner M. Redstone Burn Center.


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