Identifier |
20220213_nanos_posters_219 |
Title |
Gene Defects in the Coenzyme Q10 Biosynthesis Pathway: A Previously Unrecognised Cause of Retinitis Pigmentosa |
Creator |
Neringa Jurkute; Iain Hargreaves; Carlo Rivolta; Susanne Kohl; Susanne Roosing; Andrew Webster; Gavin Arno |
Affiliation |
(NJ) Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom of Great Britain and Northern Ireland; (IH) School of Pharmacy and Biomolecular Sciences, Liverpool, United Kingdom of Great Britain and Northern Ireland; (CR) Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland; (SK) University of Tubingen, Tubingen, Germany; (SR) Radboud University Medical Center, Nijmegen, Netherlands; (AW) (GA) Institute of Ophthalmology, University College London, London, United Kingdom of Great Britain and Northern Ireland |
Subject |
Genetic Disease; Retina |
Description |
Coenzyme Q10 (CoQ10) is synthesised in the inner mitochondrial membrane across all systems with higher expression in high energy demand tissues (e.g. liver, heart, kidney, muscle, eye). CoQ10 is an essential electron carrier along the mitochondrial respiratory chain during the ATP synthesis. Thus, biallelic pathogenic variants in nuclear CoQ10 biosynthesis genes lead to a primary CoQ10 deficiency and consequent dysfunction of the respiratory chain. Clinical phenotyping has suggested retinopathy may be part of the syndromic phenotype in a number of cases of primary CoQ10 deficiency. A recent study reported a novel presentation of the disease that included nephropathy and retinopathy without neurological involvement. We investigated CoQ10 biosynthesis defects in inherited retinal dystrophy (IRD). |
Date |
2022-02 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2022 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2022: Poster Session I: Disorders of the Anterior Visual Pathway (Retina, Optic Nerve, and Chiasm) |
Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6qghxst |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
2063413 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6qghxst |