There are plenty of great scientific research stories out this week. Here’s a look at just a few of them.
Glaucoma May Be an Autoimmune Disease
Glaucoma is a disease that causes increased pressure in the eye, which can damage the retina and optic nerve and lead to blindness. Although it’s known that it often runs in families, there is much that is unknown about the disease. Recently, researchers from the Massachusetts Institute of Technology and Massachusetts Eye and Ear found T-cells in the eye of mice with glaucoma, suggesting there may be an autoimmune component to the disease. The T-cells appeared ready to attack retinal neurons. “This opens a new approach to prevent and treat glaucoma,” said Jianzhu Chen, an MIT professor of biology and one of the senior authors of the study, which appeared in Nature Communications.
One unusual aspect of the disease is that, even after intraocular pressure returns to normal after treatment, the disease still often continues to get worse. Researcher Dong Feng Chen,associate professor of ophthalmology at Harvard Medical School and the Schepens Eye Research Institute of Massachusetts Eye and Ear, stated, “That led us to the thought that this pressure change must be triggering something progressive, and the first thing that came to mind is that it has to be an immune response.”
Chromosome 15 Region Linked to Lung Cancer Risk and Behavioral Factors
Researchers at Geisel School of Medicine at Dartmouth and Baylor College of Medicinepublished research in Nature Communications identifying a number of genetic pathways found on chromosome 15 linked to increased lung cancer susceptibility. Lung cancer accounts for 13 percent of all cancer cases in the world and 23 percent of all cancer-related deaths. A specific locus on chromosome 15, identified as 15q25.1, has been previously identified as a susceptibility region for lung cancer, smoking behavior and nicotine addiction. The researchers further analyzed the pathways involved in this region, showing evidence that epigenetic silencing of nAChr-encoding genes at that locus may contribute to lung cancer risk.
The authors wrote, “Our previous GWA (genome-wide association) studies found that variants in chromosome 15q25.1, including single-nucleotide polymorphisms (SNPs) and haplotypes, are involved in the etiology of overall lung cancer susceptibility and by histology and smoking status. However, lung cancer, being a disease of complex origin, is usually considered to result from complex effects of smoking along with multiple genetic variants affecting a number of pathways or biological processes.”
Unraveling the Causes of Fibrosis
Researchers at Helmholtz Zentrum Munchen and the University of Denver publishedresearch in the American Journal of Respiratory and Critical Care Medicine that the signaling molecule WNT5A plays a significant role in fibrosis development. The research was on idiopathic pulmonary fibrosis (IPF), a disorder with increased development of connective tissue in the lungs that causes scarring (fibrosis) of functional lung tissue. This can lead to impaired lung function. The research, led by Melanie Konigshoff, found that extracellular vesicles are involved in IPF.
“Simply put, extracellular vesicles are tiny pouches released by cells that can contain a large number of messenger substances, such as proteins and nucleic acids,” said Mareike Lehmann,one of the study’s authors, in a statement. “They are an important means of communication between cells and organs and help to ensure that the substances reach completely new sites.”
The researchers found that increased levels of extracellular vesicles that occur in IPF patients act as carriers of WNT5A. They intend to study whether these extracellular vehicles could be used as a pharmacological biomarker and drug target.
Genetic Test to Provide Clearer Risk for 5 Major Diseases
Researchers at the Broad Institute of the Massachusetts Institute of Technology and Harvard, Massachusetts General Hospital (MGH) and Harvard Medical School developed a genomic screening test and algorithm to more clearly pinpoint risk for coronary artery disease, atrial fibrillation, type 2 diabetes, inflammatory bowel disease, and breast cancer. Their work was published in Nature Genetics.
The group tested and validated the polygenic risk score algorithms on data from more than 400,000 people in the UK Biobank. They evaluated more than 6.6 million sites in the genome. They noted that many individual variants in the genome have a small impact on risk, but when developing a risk score and interactions of numerous variants, the risk becomes much clearer. For example, Amit Khera, a cardiologist at MGH, noted that individuals with high polygenic risk scores for coronary artery disease didn’t necessarily exhibit warnings signs like hypertension or high cholesterol.
“These individuals, who are at several times the normal risk for having a heart attack just because of the additive effects of many variations, are mostly flying under the radar,” Khera said in a statement. “If they came into my clinical practice, I wouldn’t be able to pick them out as high risk with our standard metrics. There’s a real need to identify these cases so we can target screening and treatments more effectively, and this approach gives us a potential way forward.”
Why Women Get More Migraines than Men
Generally, researchers believe the reason women get more migraines than men is related to more variability in hormone levels. But why? Researchers with the Universitas Miguel Hernandez in Spain published research in Frontiers in Molecular Biosciences that indicates that sex hormones affect cells around the trigeminal nerve and connected blood vessels in the head. And in particular, estrogen sensitizes these cells to trigger migraines.
“We can observe significant differences in our experimental migraine model between males and females and are trying to understand the molecular correlates responsible for these differences,” stated Antonio Ferrer-Montiel, one of the authors of the study. “Although this is a complex process, we believe that modulation of the trigeminovascular system by sex hormones plays an important role that has not been properly addressed.”
Although the work is preliminary, it has the potential to provide researchers with new avenues for developing preventive measures and treatment for migraine.
Twist and Bend to Break Dry Spaghetti into Two Pieces
Who cares, right? Well, physicists. There is a long-term spaghetti experiment—if you take a single long piece of dry spaghetti (or any length rod, apparently, pasta or otherwise), hold it at both ends and bend it until it breaks, it will break into three or more pieces. In 1939, physicist Richard Feynman spent much of an evening breaking pasta and looking for a theoretical rationale for this fact. And it went unsolved until 2005, when French physicists developed a “snap-back” theory, where when the pasta breaks in the center where it’s most curved, it triggers a “snap-back” effect and bending vibration or wave that continues to break the stick. Physicists have continued—because, why not?—to study if spaghetti could be forced to break into only two pieces.
And because the world wanted to know, MIT researchers published a study in the Proceedings of the National Academy of Sciences where they found the way to break spaghetti into two—count ‘em, only two!—pieces required both bending and twisting at the same time. This required a special device to bend and twist the spaghetti.
MIT states, “The researchers say the results may have applications beyond culinary curiosities, such as enhancing the understanding of crack formation and how to control fractures in other rod-like materials such as multifiber structures, engineered nanotubes, or even microtubules in cells.”
Now admit it, you’re going to the pantry to try this, aren’t you? But they warn, “Linguini is different because it’s more like a ribbon,” stated co-author Jorn Dunkel, associate professor of physical applied mathematics at MIT. “The way the model is constructed it applies to perfectly cylindrical rods. Although spaghetti isn’t perfect, the theory captures its fracture behavior pretty well.”
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