Combinations of Polymorphic Mitochondrial DNA Variants Cause Leber's Hereditary Optic Neuropathy
Creator
Valerio Carelli; Leonardo Caporali; Luisa Iommarini; Chiara La Morgia; Anna Olivieri; Alessandro Achilli; Alessandra Maresca; Mariantonietta Capristo; Francesca Tagliavini; Valentina Del Dotto; Piero Barboni; Michele Carbonelli; Antonio Torroni
Affiliation
(VC) (CL) IRCCS Institute of Neurological Sciences of Bologna; DIBINEM, University of Bologna, Bologna, Italy; (LC) IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; (LI) (AT) Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy; (AO) (AA) Department of Biology and Biotechnology, "L. Spallanzani", University of Pavia, Pavia, Italy; (AM) (MC) (FT) (VD) (MC) IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; (PB) IRCCS San Raffaele Institute; Studio Oculistico D'Azeglio, Milan; Bologna, Italy
Subject
Optic Neuropathy
Description
Leber's hereditary optic neuropathy (LHON) is traditionally associated with primary mitochondrial DNA (mtDNA) mutations exerting the role of a necessary but not sufficient genetic factor for disease. A few families segregating LHON along the maternal line lack a primary mtDNA pathogenic mutation, posing the question if some mtDNA haplotypes with peculiar combinations of missense polymorphic variants may predispose to LHON.
Date
2018-04
Language
eng
Format
video/mp4
Type
Image/MovingImage
Source
2018 North American Neuro-Ophthalmology Society Annual Meeting
