Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction. It was the time of the Human Genome Project, and it had taken armies of sequencing robots working around the clock for almost a decade to unravel the complete sequence of the human genetic code - referred to as the genome - by churning out the DNA alphabet letter by letter. Now a team headed by Michael Hammer from the University of Arizona applied Next Generation Genome Sequencing to decipher the entire DNA from a patient who had died from sudden unexplained epileptic death. Not only did they find the likely culprit - a previously unknown mutation in a gene coding for a sodium channel protein in the central nervous system - but their findings offer some emotional relief and explanation to the patient's family in the absence of a medical diagnosis and any family history of similar disease.
The substitution of brand-name antiepileptic drugs with cheaper generic equivalents has been an ongoing point of contention among doctors, federal officials and people with epilepsy. The U.S. Food and Drug Administration claims generic antiepileptic drugs have the same dosage, purity and strength as their brand-name counterparts and the two are interchangeable. But doctors and people with epilepsy remain concerned, citing widespread reports of individuals suffering seizures after switching medication. A new comprehensive review by pharmacists and doctors at the University of Connecticut and Hartford Hospital shows that it is not the anticonvulsant drugs themselves, but the switching aspect that may be causing the problem. In a review of 89 different studies dating back to 1950, the researchers found that the efficacy, tolerability and safety of brand-name and generic antiepileptic medications are virtually the same.
In fairy tales, magic rings endow their owners with special abilities: the ring makes the wearer invisible, fulfils his wishes, or otherwise helps the hero on the path to his destiny. Similarly, a ring-like structure found in a protein complex called 'Elongator' has led researchers at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and the Institut de Genetique et Biologie Moleculaire et Cellulaire (IGBMC) in Strasbourg, France, in exciting new directions. Published in Nature Structural & Molecular Biology, the first three-dimensional structure of part of this complex provides new clues to its tasks inside the cell and to its role in neurodegenerative diseases. Changes to the proteins that make up Elongator have been linked to disorders such as familial dysautonomia and childhood epilepsy, and scientists knew that the complex is involved in a variety of processes inside the cell, but exactly what it does has so far remained a mystery.
To explore the most intricate structures of the brain in order to decipher how it functions - Stefan Hell's team of researchers at the Max Planck Institute for Biophysical Chemistry in Gottingen has made a significant step closer to this goal. Using the STED microscopy developed by Hell, the scientists have, for the first time, managed to record detailed live images inside the brain of a living mouse. Captured in the previously impossible resolution of less than 70 nanometers, these images have made the minute structures visible which allow nerve cells to communicate with each other. This application of STED microscopy opens up numerous new possibilities for neuroscientists to decode fundamental processes in the brain. Every day a huge quantity of information travels not only over our information superhighways;
Scientists at Emory University School of Medicine have identified a new group of compounds that may protect brain cells from inflammation linked to seizures and neurodegenerative diseases. The compounds block signals from EP2, one of the four receptors for prostaglandin E2, which is a hormone involved in processes such as fever, childbirth, digestion and blood pressure regulation. Chemicals that could selectively block EP2 were not previously available. In animals, the EP2 blockers could markedly reduce the injury to the brain induced after a prolonged seizure, the researchers showed. The results were published online this week in the Proceedings of the National Academy of Sciences Early Edition. "EP2 is involved in many disease processes where inflammation is showing up in the nervous system, such as epilepsy, stroke and neurodegenerative diseases, " says senior author Ray Dingledine, PhD, chairman of Emory's Department of Pharmacology.