Syndicate content

Archive - Mar 12, 2019

“Join the the R-EV-olution!” Highlights from 3rd Annual Mid-Atlantic Extracellular Vesicle (EV) Scientific Symposium

(BY RACHEL DERITA, PhD,Thomas Jefferson University, Department of Cancer Biology). The field of extracellular vesicles (EVs) is expanding rapidly and this was never more evident than when a group of prominent leaders in the field, and scientists more recently entering the field, all came to The Wistar Institute in Philadelphia, Pennsylvania for the 3rd Annual Mid-Atlantic Extracellular Vesicle Scientific Symposium on February 26, 2019. The Symposium provided an opportunity for veteran EV researchers from different backgrounds, and scientists who have more recently entered the field, to both present their research and network with each other to exchange insights on this exciting and accelerating field that seems more important in more different areas almost every week. The Symposium began with a talk by Kenneth Witwer, PhD, Associate Professor of Molecular and Comparative Pathobiology at Johns Hopkins University, and a Co-Chair of the Symposium, who is also Executive Chair of the International Society of Extracellular Vesicles (ISEV). Recently, Dr. Witwer and Clotilde Thery, PhD, INSERM Director of Research at the Institut Curie, and over 380 other contributing ISEV members, published the “Minimal Information for Studies of Extracellular Vesicles 2018 (MISEV 2018) in the Journal of Extracellular Vesicles. This is an update to guidelines first published in 2014 in response to a need for increased methodologic understanding and rigor in the EV field. Dr. Witwer highlighted some of the most important updates made to MISEV since 2014. The most prominent of these was in the nomenclature of EVs.

Gene (MT-ATP6) Behind Long-Recognized Mitochondrial Disease Has Highly Varied Effects; CHOP Researchers Find More Than 30 Variations in MT-ATP6 Gene with Broadly Variable Clinical Symptoms and Biochemical Features

For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However, according to new findings from researchers at Children's Hospital of Philadelphia (CHOP), mutations in this gene, which encodes an essential part of the mitochondrial motor known as ATP synthase that generates cellular energy, are much more variable than previously thought. This prompts the need to develop more precise clinical tests that can better determine the course of treatment for patients affected by mitochondrial disorder. The study was published online on February 14. 2019 in the journal Human Mutation. The article is titled “"MT-ATP6 Mitochondrial Disease Variants: Phenotypic and Biochemical Features Analysis in 218 Published Cases and Cohort of 14 New Cases." Mitochondria are structures found within human and animal cells that are responsible for energy production. Mitochondria contain 37 genes encoded in their own DNA (mtDNA) that are separate from the DNA found inside the nucleus of the cell. Variations in more than 350 different genes located across both nuclear and mitochondrial DNA are responsible for causing mitochondrial diseases, which can typically cause more than 16 different symptoms in each patient and affect multiple organs. Mutations in the mtDNA-encoded ATP synthase membrane subunit 6 gene (MT-ATP6) are found in between 10 and 20 percent of cases of Leigh syndrome, a progressive brain disorder long recognized as a form of mitochondrial disease, and another recognizable condition known as neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome.