Miryam Naddaf Both smoking and drinking are influenced by genetics as well as environmental factors. Credit: Bunyos/iStock/Getty More than 3,500 genetic variations that potentially affect smoking and drinking behaviour have been identified in a study involving almost 3.4 million people with African, American, East Asian and European ancestry. The findings, published in Nature on 7 December1, highlight...
Category: <span>Genetics</span>
Describing the genes associated with the sixth sense
by Anke Brodmerkel, Max Delbrück Center for Molecular Medicine Different populations of sensory neurons cell bodies in a dorsal root ganglion (right) and their axons in the spinal cord (left): The cells in green detect proprioceptive information while the cells in red thermal and tactile information. Credit: Stephan Dietrich, Zampieri Lab, Max Delbrück Center To perform...
Study links molecular changes to long COVID a year after hospitalization
by The Mount Sinai Hospital Study workflow. Schematics of the study design, analysis workflow and validation. a, Summary of the cohort studied and data collected. b, Strategy for CTS differential expression testing for PASC symptoms. c, Strategy for distinguishing DEGs by whether or not their differential expression is dependent on anti-spike antibody titers. d, Validation strategies employed using independent...
Autism-linked gene found to shape nerve connections
by Alan Dove, Cornell University Brain connectivity is changed upon removal of an autism-associated gene. Neuron is on one side of the brain (labeled in red) and nerve endings are coming from the other side of the brain (labeled in green). Credit: Camilo Ferrer A gene linked to autism spectrum disorders plays a critical role...
Protein mutation that causes Parkinson’s may prevent another neurodegenerative disease
by University of Massachusetts Amherst Mice expressing E46K alpha-synuclein developed neuropathological inclusions in the brain (shown in green) following injection with recombinant E46K fibrils. Red staining shows astrocytes, blue is cell nuclei. Credit: Woerman Lab, UMass Amherst A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s...
Squamous cell carcinoma study: Cancer stem cells are fueled through dialogue with their environments
by Rockefeller University TGF beta signaling (red) is one way that the environment causes cancer stem cells at the stroma-tumor border (green) to become invasive. Living cells are dyed blue. Credit: Shaopeng Yuan What drives tumor growth? Is it a few rogue cells imposing their will upon healthy tissue, or diseased tissue bringing out the...
Scientists link rare genetic phenomenon to neuron function, schizophrenia
UNIVERSITY OF NORTH CAROLINA HEALTH CARE IMAGE: TANDEM REPEAT CREDIT: JIN SZATKIEWICZ LAB, UNC SCHOOL OF MEDICINE CHAPEL HILL, NC – In our cells, the language of DNA is written, making each of us unique. A tandem repeat occurs in DNA when a pattern of one or more nucleotides – the basic structural unit of...
Researchers discover genetic variant associated with earlier onset childhood epilepsy
by Children’s Hospital of Philadelphia Credit: Unsplash/CC0 Public Domain Researchers at Children’s Hospital of Philadelphia (CHOP) have discovered a specific genetic variant in SCN1A, the most common genetic epilepsy, that leads to an earlier onset of epilepsy, with clinical features distinct from other epilepsies. The researchers also identified a potentially effective treatment strategy. The findings...
Genetic testing for epilepsy improves patient outcomes
by Olivia Dimmer, Northwestern University Reported Clinical Actions After a Definitive Genetic Diagnosis A, Respondents reported whether the genetic finding influenced a change in clinical management of the patient. B, Those who indicated “yes” selected all of the changes that were implemented or recommended (a patient could have >1 recommendation reported and is counted in...
Simultaneous radiation and immunotherapy found to be beneficial for a subset of lung cancer patients
by University of Chicago Medical Center Aneuploidy and TMB are synergistic predictors of survival following immunotherapy. Credit: Nature Genetics (2022). DOI: 10.1038/s41588-022-01235-4 In many cancer types, cancer cells try to survive by escaping attack from the immune system. These cancer cells hijack mechanisms called immune checkpoints to trick the immune system into thinking they are healthy cells....