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 do not show symptoms until a very old age. Studying these individuals may help identify other gene variants that help delay the onset of the disease.

In a new study, Yakeel T. Quiroz, PhD, MGH neurologist, describes one such patient from a large extended family in Colombia that is genetically prone to early onset Alzheimer’s.

The patient has the genetic mutation that causes early onset Alzheimer’s, but unlike most of her relatives – who developed signs of dementia in their 40s –
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 delay the disease onset by limiting the more damaging effects of tau tangles and neurodegeneration that occur after the building up amyloid beta.

The results suggest it may be possible to delay the onset of Alzheimer’s disease 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.

Why some football players have a higher cardiovascular risk than other athletes

While research has shown that elite athletes are at a decreased risk of death from cardiovascular problems, a certain group of athletes – football linemen in the United States – actually have higher risk than the general population and other elite athletes.

A study led by Aaron Baggish, MD, director of the MGH Cardiovascular Performance Program, found that most football players who play on the offensive and defensive line at the college or professional level 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.

MGH performs first application of pig skin to a human wound

Burn specialists at the MGH have successfully used a live-cell, genetically engineered pig skin to temporarily close a burn wound in a 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 alleviate the shortage of human cadaveric tissue 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 Redstone Burn Service.