| Identifier |
20240305_nanos_sciplatform3_07 |
| Title |
Neuro-ophthalmological Phenotype and Correlations with Heteroplasmy Levels in MELAS and MERRF Syndromes |
| Creator |
Giulia Amore; Michele Carbonelli; Martina Romagnoli; Leonardo Caporali; Alessandra Maresca; Chiara La Morgia; Valerio Carelli |
| Affiliation |
(GA) University of Bologna; (MC) University of Bologna, Department of Biomedical and Neuromotor Sciences; (MR) (LC) (AM) IRCCS Istituto Scienze Neurologiche di Bologna, Programma di Neurogenetica; (ML) IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; (VC) IRCCS Istituto di Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy |
| Subject |
Genetic Disease; Diagnostic Tests (ERG, VER, OCT, HRT, mfERG, etc); Optic Neuropathy; Retina |
| Description |
A critical threshold of mutant mtDNA is necessary to manifest symptoms both in carriers of the Mitochondrial myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS)-associated m.3243A>G/MT-TL1 mutation and Myoclonic epilepsy with ragged-red fibers (MERRF)-associated m.8344A>G/MT-TK mutation. However, a correlation between heteroplasmy and specific clinical phenotypes is poorly documented. We performed a prospective study to compare neuro-ophthalmological features in MELAS and MERRF and correlate them with heteroplasmy levels. |
| Date |
2024-03 |
| References |
de Laat P, Smeitink JAM, Janssen MCH, Keunen JEE, Boon CJF. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation. Ophthalmology. 2013 Dec;120(12):2684-2696. doi: 10.1016/j.ophtha.2013.05.013. Epub 2013 Jun 24. PMID: 23806424. Najjar RP, Reynier P, Caignard A, Procaccio V, Amati-Bonneau P, et al. Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers. J Neuroophthalmol. 2019 Mar;39(1):18-22. doi: 10.1097/WNO.0000000000000690. PMID: 29979334. Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, et al. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Mol Med. 2018 Jun;10(6):e8262. doi: 10.15252/emmm.201708262. PMID: 29735722; PMCID: PMC5991564. |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Source |
2024 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2024: Scientific Platform: Session III |
| 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 2024. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6e2689p |
| Setname |
ehsl_novel_nam |
| ID |
2589960 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6e2689p |
