Researchers discover a novel mechanism behind a rare brain disease. Thanks to research teams on opposite sides of the world, a rare but potentially debilitating brain disorder now has a definitive cause. The disorder, known as hypomyelinating leukodystrophy, is caused by a mutation in the gene t
Quasar Padiath, Ph.D. Credit: Joshua Franzos, University of Pittsburgh, has been definitively connected to the development of any brain disorder. It has the potential to shed light on the function of zinc in healthy brain development as well as in brain injury and disease.
Hypomyelinating leukodystrophies are rare and often deadly neurological disorders caused by defects in genes involved in the growth or maintenance of myelin, the fatty layer of insulation that surrounds neurons and aids in the transmission of electrical impulses.
By combing through patients’ genomes, Padiath looks for mutations and analyzes the effect of these mutations in cells and animal models, such as mice. Such an analysis is no small feat. To definitively link a new gene mutation to disease symptoms, multiple independent patient cases that share the same gene defect and clinical presentation have to be identified.
Norge Siste Nytt, Norge Overskrifter
Similar News:Du kan også lese nyheter som ligner på denne som vi har samlet inn fra andre nyhetskilder.
Scientists Discover That the “Love Hormone” Could Actually Heal Your HeartResearchers have found that oxytocin, sometimes known as the 'love hormone,' may one day help heal damaged hearts after a heart attack. The neurohormone oxytocin is widely recognized for fostering social connections and producing pleasurable feelings, such as those associated with sex, exercise, or
Les mer »
Scientists Strap Cameras to Sharks and Discover Huge Underwater ForestResearchers strapped cameras to tiger sharks and discovered a massive underwater forest of seagrass stretching 35,000 square miles across the seabed.
Les mer »
Scientists Discover Closest Known Black Hole to EarthEarthlings, meet your celestial neighbor: an absolutely massive black hole, which is lying dormant in a nearby binary star system.
Les mer »
Overcoming Paralyzing Fear: Scientists Trace Stress Response Brain CircuitAt one time or another, we’ve all felt paralyzed by a threat or danger. Now scientists have traced where that reaction to a threat arises. In a new study, University of Iowa researchers confirmed a neural circuit linking two separate regions in the brain governs how animals, including humans, rea
Les mer »
Georgia 'Blue Alert' suspect still on the run after investigators discover carInvestigators have located the car a man at the center of a 'Blue Alert' in Georgia allegedly took off from the scene of a shooting that left a detention officer injured and another person dead.
Les mer »
10-Million-Years in the Making – Researchers Discover First-Ever Documented Hybrid of Its KindBirdsong reveals a rare hybrid coupling. Stephen Gosser, a self-described 'diehard birder,' was out in the Western Pennsylvania woods in June of 2020 when he believed he heard the singing of the elusive and breathtakingly beautiful scarlet tanager. The blood-red bird, which has black wings and a ta
Les mer »