MicroRNAs in RPE Homeostasis and Disease
Age-related macular degeneration (AMD) is a major public health problem with devastating effect upon patients and composes a significant socio-economic burden world-wide. AMD affects 30% of individuals aged 70 years and older and its prevalence will rise as life expectancy increases due to changing demographics. In the past few years, significant progress was made on the recognition of the genetic and environmental risk factors that predispose and elicit AMD. However, treatment options remain limited because the pathogenetic molecular mechanism of AMD are incompletely defined.
Recently, some small fragments of the human genome, termed microRNAs, have been identified and found to have a fundamental role in many biological processes, both in physiological and in pathological conditions. The goal of this project is the study of the possible role of a microRNA, named miR-211, in RPE physiology, survival, homeostasis both as causative agents and as therapeutic agents.
About the Researcher
Ivan Conte, PhD, is a faculty member and head of Medaka Core Facility at the Telethon Institute of Genetics and Medicine, Pozzuoli (Italy). He completed his doctoral studies at “Federico II” University of Naples (Italy) and was trained as a postdoctoral fellow at the Institute of Neurobiology “Ramon y Cajal” at Madrid (Spain). In 2007, he was honored for scientific achievements in neurobiology from the President of the Italian Republic. In 2012, he started as associate professor at Telethon Institute of Genetics and Medicine in a National Operational Programme for Research and Competitiveness (PON). Dr. Conte’s research team is focused on defining the physiological pathways and signaling that are impaired in RPE/photoreceptor crosstalk. His research team uses multidisciplinary techniques (drug screening, biochemistry, cell and molecular biology, transgenesis, gain-or loss-of function studies) applied to different model organisms: cell lines, mouse and medaka fish. Prior to his BrightFocus Foundation Award, Dr. Conte received grants from the European Union and the Italian Ministry of Foreign Affairs.
"Eye disease represents one of the most common groups of genetic disorders in the human population. Over 200 different forms of ocular disorders have been described and it has been estimated that about 27 percent of the phenotypes described in OMIM (On-line Mendelian Inheritance in Man) affect the eye.
Since the beginning of my scientific career, my aim has been to identify and characterize molecules involved in eye development and function, and I have tried to translate the basic discoveries into a new view for therapeutic approaches. I have a personal reason for studying the eye disease: having seen first-hand the progressive effects of AMD disease through experience with a family members.
My award from the BrightFocus Foundation will go to make it possible to continue with cutting-edge research that will contribute to establishing an innovative therapeutic treatment of AMD. Within the scope of this support from BrightFocus Foundation and its donors, I hope to identify new additional molecules as responsible for AMD disorders; to open new avenues for specific molecular diagnosis in patients; and to encourage I the development of strategies for gene therapy and pharmacological treatments."
Naso F, Intartaglia D, Falanga D, Soldati C, Polishchuk E, Giamundo G, Tiberi P, Marrocco E, Scudieri P, Di Malta C, Trapani I, Nusco E, Salierno FG, Surace EM, Galietta LJ, Banfi S, Auricchio A, Ballabio A, Medina DL, Conte I. Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance. EMBO J. 2020 Apr 15;39(8):e102468. doi: 10.15252/embj.2019102468. Epub 2020 Mar 10. PubMed PMID: 32154600
Barbato S, Marrocco E, Intartaglia D, Pizzo M, Asteriti S, Naso F, Falanga D, Bhat RS, Meola N, Carissimo A, Karali M, Prosser HM, Cangiano L, Surace EM, Banfi S, Conte I. MiR-211 is essential for adult cone photoreceptor maintenance and visual function. Sci Rep. 2017 Dec 5;7(1):17004. doi: 10.1038/s41598-017-17331-z.
First published on: July 15, 2015
Last modified on: April 23, 2020