Tag Archives: mutations

Summary: In a groundbreaking study using Merino sheep, researchers uncovered that tiny genetic variations within gut microbes can influence brain-related behavior. By sequencing over 5,000 microbial genomes—including 3,500 never before reported—they linked single nucleotide variations (SNVs) in microbes to neurobehavioral traits and plasma metabolites tied to brain function. These SNVs, mainly within Firmicutes and Bacteroidetes, were found to alter metabolites …

Sample collection Two epithelial brushes (2–3 cm2) from the bladder top (dome) and the bladder floor (trigone) were obtained from 53 people without known bladder pathology and no history of bladder cancer upon autopsy (average 4 days post-mortem) at the University of Washington. Next of kin consented to autopsies and research on leftover specimens. The study of de-identified collected specimens and linked …

Summary: Groundbreaking research has revealed that as men age, harmful genetic mutations in sperm not only accumulate but are also favored during sperm production, giving them a reproductive advantage. Using ultra-accurate DNA sequencing, scientists found that sperm from older men were significantly more likely to carry disease-causing mutations, including those linked to neurodevelopmental disorders and cancer. This phenomenon, known as …

Case reports The first patient (P1) was male, with disease-onset at age 12 years. The patient presented with periorbital oedema after tonsillitis, accompanied by reduced urine output and recurrent fevers. Laboratory investigations showed proteinuria, haematuria, hypoalbuminaemia, leukopaenia, mild anaemia and hypocomplementaemia. ANA and anti-dsDNA autoantibodies were positive. Kidney biopsy showed diffuse proliferative lupus nephritis with crescent formation. The second patient (P2) …

Mutated wildlife spotted throughout the US has sparked fears that a larger outbreak of infectious diseases may soon threaten humans.  On social media, images of rabbits with tentacles on their faces, squirrels with oozing sores, and deer with massive flesh bubbles on their bodies have poured in from Washington to Minnesota to New York. Now, experts warn that Americans will see even …