Metabolomic and Biomarker Profiling in Mitochondrial Optic Neuropathies (video)
Creator
Patrick Yu-Wai-Man
Affiliation
Newcastle Wellcome Trust Centre for Mitochondrial Research; Moorfields Eye Hospital., Newcastle upon Tyne, United Kingdom
Subject
Genetic Disease; Optic Neuropathy
Description
Mitochondrial optic neuropathies constitute an important cause of registrable blindness in both the paediatric and adult population. The two classical paradigms are Leber hereditary optic neuropathy (LHON), which is a primary mitochondrial DNA (mtDNA) disorder, and autosomal dominant optic atrophy (DOA) secondary to pathogenic mutations within the nuclear gene OPA1 (3q28-q29) that encodes for a mitochondrial inner membrane protein. Recessive and dominant WFS1 mutations have also emerged as an important cause of both isolated and syndromic optic atrophy. WFS1 (4p16.1) encodes for the transmembrane endoplasmic reticulum (ER) protein Wolframin that plays a critical role in calcium homeostasis and interorganellar cross-talk at areas of ER mitochondria; contacts. The defining neuropathological feature of all these mitochondrial optic neuropathies is the preferential loss of retinal ganglion cells (RGCs), but the marked phenotypic variability observed in this patient group and the disease mechanisms that ultimately contribute to RGC loss still need to be clarified further.
Date
2017-04-04
Language
eng
Format
video/mp4
Type
Image/MovingImage
Source
2017 North American Neuro-Ophthalmology Society Annual Meeting