Research Roundup: The Push-Pull of Genetics and Lifestyle in Heart Disease and More

research microscope

Every week there are numerous scientific studies published. Here’s a look at some of the more interesting ones.

Lifestyle Plays Bigger Role than Genetics in Premature Heart Disease

Research presented at the European Society of Cardiology 2019 annual meeting in Paris found that various lifestyle factors play a bigger role than genetics in young people with heart disease. Those lifestyle factors include physical inactivity, smoking, high blood pressure, diabetes, and high cholesterol.

“Genetics are an important contributor to premature heart disease but should not be used as an excuse to say it is inevitable,” stated author of the study, Joao A. Sousa of Funchal Hospital in Portugal. “In our clinical practice, we often hear young patients with premature heart disease ‘seek shelter’ and explanation in their genetics/family history. However, when we look at the data in our study, these young patients were frequently smokers, physically inactive, with high cholesterol levels and high blood pressure—all of which can be changed.”

The research enrolled 1,075 patients under the age of 50. Of them, 555 had coronary artery disease, including stable angina, heart attack, and unstable angina. Of the group, 87% were men. The researchers compared risk factor levels and genetics in patients compared to a control group of 520 healthy volunteers, 86% men, average age 44. They evaluated five modifiable risk factors: physical inactivity, smoking, high blood pressure diabetes, and high cholesterol. Almost three-quarters of the patients had at least three of the risk factors compared to 31% of controls. In both groups, the odds of developing CAD increased exponentially for each additional risk factor—the probability of developing CAD was three, seven and 24 times higher with one, two and three or more risk factors, respectively.

Diet Effects Effectiveness of Metformin in Type 2 Diabetes

The microbiome is the trillions of microorganisms that live in the body. It is increasingly being found to have significant effects on various disease states, not just gut diseases. Researchers found that the microbiome has an effect on how metformin affects type 2 diabetes, and vice versa. They studied the nematode worm C. elegans colonized with human gut bacteria E. coli and found that metformin altered the metabolism and lifespan of the worm, and that those affects could be enhanced or suppressed by specific nutrients. And they found that gut bacteria played a major role in the effects.

XX Sex Chromosomes Increase Fat Circulating in the Blood

Researchers working with mice, confirmed that the XX sex chromosomes—female—increased the fat circulating in the blood. This leads to narrowing of the arteries and a higher risk of heart attacks and coronary artery disease. This may seem counter-intuitive, but the conclusion is that the XX chromosomes better manage fats in women, which is why there is almost a 10-year delay in women developing coronary artery disease (CAD) than men.

New Theory of Alzheimer’s Shows Promise

Researchers at Temple University Health System have shown that a type of energy malfunction, called mitochondrial calcium transport remodeling, is involved in the progression of Alzheimer’s disease. This is a mechanism where cells attempt to compensate for decreased energy production and metabolic dysfunction. Initially helpful, this mechanism begins to malfunction, causing drops in mitochondrial function—part of each cell’s energy production system—and memory and cognition. Intracellular calcium signaling plays an essential role in synaptic transmission and brain cell communication.

Mysteries of Microtubules in the Spindle

The spindle splits chromosomes in half during cell division. That lets offspring cells have a full group of genetic material. But what is the spindle? It’s made up of tens of thousands of microtubules that are connected to “biological motors.” Microtubules only move forward when connected to a neighbor pointed in the opposite direction. What has puzzled scientists is that even when only linked to same-facing neighbors, they continue to move at full speed. Researchers identified that the microtubules are so entangled with each other that even the ones that aren’t actively being propelled forward are dragged along at full speed by the rest.

Mutations Linked to Obesity, Diabetes and Hypertension

Specific mutations in a peptide and a receptor have been linked to obesity, diabetes and hypertension in rodents—the peptide and receptor are critical for specific biological activities related to these diseases. The neuropeptide, TLQP-21 activates a receptor called C3aR1, which results in the breakdown of fat to produce energy, at least in mice. Although that pathway is conserved in obesity in humans and mice, the peptide isn’t very active in humans. The research group found that the specific changes in the peptide and receptor were unique among species, which they theorize evolved to favor energy production in some mammals and less so in others.

Gene Variants Linked to Increased Cardiovascular Disease Risk

The largest risk factors for cardiovascular disease are smoking and poor diet. But, specific gene variants have been identified that seem to make some people more susceptible to cardiovascular traits. The two gene variations appear to modulate the behavior of platelet cells, which could increase the risk of cardiovascular disease. In an analysis of the genetic code for the gene CD36, which regulates platelet levels and activation, researchers identified 81 genomic changes, two that were functional variants, affecting CD36 expression.

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