Jonathan Pritchard (center) and his colleagues, Yang Li (left) and Evan Boyle, discuss their recent work positing that almost any gene can influence disease. Credit: Steve Fisch
A core assumption in the study of disease-causing genes has been that they are clustered in molecular pathways directly connected to the disease. But work by a group of researchers at the Stanford University School of Medicine suggests otherwise. The gene activity of cells is so broadly networked that virtually any gene can influence disease, the researchers found. As a result, most of the heritability of diseases is due not to a handful of core genes, but to tiny contributions from vast numbers of peripheral genes that function outside disease pathways.
Any given trait, it seems, is not controlled by a small set o...
Eczema, or atopic dermatitis, is an inflammatory skin condition that affects an estimated 30 percent of the U.S. population, mostly children and adolescents.NIAID
Researchers have identified mutations in a gene called CARD11 that lead to atopic dermatitis, or eczema, an allergic skin disease. Scientists from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and other institutions discovered the mutations in four unrelated families with severe atopic dermatitis and studied the resulting cell-signaling defects that contribute to allergic disease. Their findings, reported in Nature Genetics, also suggest that some of these defects potentially could be corrected by supplementation with the amino acid glutamine.
The scientists analyzed the genetic sequences of patients with severe atopic dermatitis and identified 8 individuals from four families with mutations in the CARD11 gene, which provides instructions for production of a cell-signaling protein of the same name. While some people with these mutations had other health issues, such as infections, others did not, implying that mutations in CARD11 could cause atopic dermatitis without leading to other medical issues often found in severe immune system syndromes.
Each of the four families had a distinct mutation that affected a different region of the CARD11 protein, but all the mutations had similar effects on T-cell signaling. With cell culture and other laboratory experiments, the researchers determined that the mutations led to defective activation of two cell-signaling pathways, one of which typically is activated in part by glutamine.
Growing cultured T cells from patients with CARD11 mutations with excess glutamine boosted mTORC1 activation, a key part of one of the affected pathways, suggesting the potential to partially correct the cell-signaling defects that may contribute to atopic dermatitis. The scientists now are planning a study to assess the effect of supplemental glutamine and leucine, another amino acid that activates mTORC1, in people with atopic dermatitis with and without CARD11 mutations. https://www.nih.gov/news-events/news-releases/scientists-identify-single-gene-mutations-lead-atopic-dermatitis
Professor Alan Lau has mixed animal fibres with degradable plastics for better bone recovery.
Silk is an unlikely substitute for steel in any context, but for bone fractures, it may just be the perfect thing. A Swinburne researcher has developed a mix of cocoon silk fibres and biodegradable polymers that may one day hold bones together and help heal them from the inside out. Steel plates and bolts are often a surgeon’s only tools for fixing fractured bones. The problem is that steel can block new bone cells from repairing the fracture. Removing the steel through further surgery can leave bones brittle.
For 10 years, researchers have investigated a biodegradable polymer called PLA, already used in some food packaging, for medical implants...
Inhibition of Lateral Prefrontal Cortex Produces Emotionally Biased First Impressions: A Transcranial Magnetic Stimulation and Electroencephalography Study, Psychological Science (2017). DOI: 10.1177/0956797617699837
Life is full of emotional highs and lows, ranging from enjoying an activity with a loved one and savoring a delicious meal to feeling hurt by a negative interaction with a co-worker or that recent scuffle with a family member. But when we let emotions from one event carry on to the next, such spillover can color our impressions and behavior in those new situations – sometimes for the worse...
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