Lifeboat Foundation: Safeguarding Humanity
Toggle light / dark theme

Blog

Category: biotech/medical – Page 206

Overlooked non-coding genes cause diabetes in babies, study reveals

Scientists have found new genetic causes for diabetes in babies—in a part of the genome that has historically been overlooked in genetic studies. Until recently, most research has investigated causes of disease in “coding” genes—those that produce proteins. Now, academics at the University of Exeter and their international collaborators have found that DNA changes in two genes that instead make functional RNA molecules are a cause of diabetes. RNA plays various roles in the body, including regulating genes and influencing how genetic information is “read” and interpreted.

The study is titled “Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes,” and was published in the American Journal of Human Genetics.

The team used genome sequencing, a method that reads all the letters in a person’s DNA. They found that changes in two genes called RNU4ATAC and RNU6ATAC were the cause of autoimmune neonatal diabetes in 19 children.

Worldwide Radiation Dose in Coronary Artery Disease Diagnostic Imaging

Among patients worldwide with suspected CoronaryArteryDisease, median radiation doses exceeded guideline thresholds (9 mSv) for 21% undergoing nuclear cardiology studies and 44% undergoing CCTA, with dose differences up to 500% across regions.

The findings suggest considerable opportunities to improve cardiac imaging quality and safety through harmonized protocols and technology upgrades.

Question How does radiation dose from cardiac diagnostic testing vary worldwide?

Findings In this cross-sectional study in 101 countries including 19 302 patients, radiation doses varied significantly between imaging tests and among patients receiving the same tests across centers, regions, and country income strata. This was especially pronounced for coronary computed tomography angiography, for which median dose in low-and lower-middle–income countries was more than 280% of that in high-income countries and median dose in Africa was more than 500% of that in Western Europe.

Meaning Current radiation doses for cardiac testing exceeded 9 mSv for 21% of patients undergoing nuclear cardiology studies and for 44% undergoing coronary computed tomography angiography, identifying critical needs for training, standardized protocols, and updated equipment to reduce radiation worldwide.

Surprising finding in the eye may explain how we see in low light

A new Yale School of Medicine (YSM) study has uncovered surprising new details about how our eyes process what we see. When we look at something, our visual system breaks down different aspects of the scene—such as color, contrast, and motion—and processes those components separately. It’s called parallel visual processing and it’s what allows our brains to work out what we’re seeing so quickly.

This separation of information starts in the retina, and scientists have thought that separation is maintained as the information travels through the visual system. But in a study published in Neuron, researchers have found that information channels are more integrated than previously thought. This may help cells process weak visual signals, such as low-light conditions, the researchers say.

“We found that while different channels can deliver their own features, they’re also interconnected by underlying electrical circuitry,” says Yao Xue, Ph.D., a postdoctoral fellow in the department of ophthalmology and visual science at YSM and the study’s first author.

The mainz resilience assessment in childhood cancer (MRAcc): development of a novel age-specific patient-reported outcome measure to assess resilience in childhood cancer patients

During intensive cancer treatment, children, adolescents and young adults are exposed to numerous toxicities and psychosocial stressors that can cause psychosocial distress and impair mental health. The maintenance or rapid recovery of mental health during and after exposure to significant stressors has been defined as resilience. To date, resilience research has focused primarily on cross-sectional assessment of specific, trait-like resilience factors and concepts in long-term survivors of childhood cancer, typically omitting the influence of context-specific biopsychosocial stressors and resilience dynamics throughout treatment. Little is known about outcome-based resilience and mental health resources in childhood cancer patients undergoing cancer treatment. In addition, specific instruments for age-appropriate assessment of resilience in childhood cancer patients are lacking. To address this gap, within the EU Horizon 2020-funded FORTEe project, we developed a novel self-report instrument for longitudinal assessment of resilience in children, adolescents, and young adults with cancer, featuring age-appropriate items tailored to their specific contexts.

An interdisciplinary team of psychologists, psychiatrists and pediatric oncologists developed an age-appropriate self-report instrument to assess resilience longitudinally in children, adolescents, and young adults undergoing cancer treatment. Following current resilience research frameworks, resilience is defined as the ratio of changes in mental health problems to stressor exposure. Accordingly, the measure comprises two domains: mental health problems (anxiety, depression, distress, fatigue) and stressor exposure (daily hassles, cancer-related stressors), with stressors rated for both frequency and intensity.

The Mainz Resilience Assessment in Childhood Cancer (MRAcc) consists of three age-specific versions (children 5–11 years, adolescents 12–17 years, young adults 18–21 years), each including the sections: ‘Emotions & Distress’, ‘Fatigue’, and ‘Situations & Experienced Stress’. It is available in German and English and uses either five-point-Likert scales or visual analogue scales presented as thermometers.

Long non-coding RNA may be a promising therapeutic target for cancer

Northwestern Medicine scientists have discovered that a specific long non-coding RNA activates oncogenic signaling pathways in prostate cancer cells and drives tumor progression, underscoring its potential as a therapeutic target, according to a recent study published in Nature Communications. Rendong Yang, Ph.D., associate professor of Urology and a member of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University, was co-corresponding author of the study.

Long non-coding RNAs (lncRNAs) are a type of RNA with transcripts that contain more than 200 nucleotides and play a central role in regulating gene expression, most notably in cancer progression. While previous work has identified many cancer-associated lncRNAs, the mechanisms by which lncRNAs influence cancer progression have remained unknown due to lncRNAs’ cell type-specific and tissue-specific gene expression patterns.

In the current study, the scientists aimed to uncover cellular interactions between super-enhancers—clusters of regulatory DNA elements that drive high levels of transcription—and lncRNAs by studying RNA sequencing data from patients with metastatic castration-resistant prostate cancer.

Alzheimer’s Risk Gene Alters Brain Activity Early — But It May Be Reversible

Carrying one or two copies of the APOE4 gene variant significantly increases the risk of developing Alzheimer’s, and a new study reveals how APOE4 can change neuron activity – potentially many years before symptoms such as memory loss start showing.

In young mice bred to have the APOE4 gene, researchers found specific neurons were smaller and more hyperactive in parts of the brain’s memory center, the hippocampus.

What’s more, they were able to identify a protein, Nell2, contributing to the disruption – and a potential pathway to reverse the damage in advanced cases.

Aging human breast atlas reveals cancer susceptibility

The team used advanced imagining techniques to analyse breast tissue from more than 500 women aged 15 to 86 years old. The tissue included biopsies taken from women for non-cancer-related reasons.

Combining these images with details of the hormone receptors and immune cells present, as well as the tissue architecture, the researchers were able to map how breast tissue changes over time in unprecedented detail. Their findings point to reasons why breast cancer risk increases with age and why tumors in younger women differ biologically.

The author added: “Our map revealed that as women age, their breast tissue goes through major changes, with the most dramatic changes occurring at menopause. There are changes, too, during their twenties, possibly linked to pregnancy and childbirth, but these are far less pronounced.”

The map revealed that all types of cells become fewer in number and divide far less often. Milk-producing structures known as lobules shrink or disappear, while the ducts that that carry milk become relatively more common, with the supporting layer around them becoming thicker. Fat cells increase while blood vessels decrease.

Meanwhile, changes occur in the immune environment. Younger breasts have more B cells and active T cells, which helps them identify and kill cancer cells. As tissue ages, these types of cells decline in number, replaced by other types of immune cell that indicate a more inflammatory and potentially less protective immune environment. ScienceMission sciencenewshighlights.

Scientists have created the most detailed map to date, comprised of over 3 million cells, showing how breast tissue changes as women age – including dramatic changes during menopause.

Continue reading “Aging human breast atlas reveals cancer susceptibility” | >

/* */