| Title |
Novel Mutations in the ND5 Gene Associated With Leber Hereditary Optic Neuropathy |
| Creator |
Bhadra U. Pandya; Nathania A. Takyi; Amir R. Vosoughi; Edward A. Margolin; Jonathan A. Micieli |
| Affiliation |
Temerty Faculty of Medicine (BUP), University of Toronto, Toronto, Canada; Department of Chemistry and Biochemistry (NAT), University of Lethbridge, Lethbridge, Canada; Max Rady College of Medicine (ARV), Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada; Department of Ophthalmology and Vision Sciences (EAM, JAM), Faculty of Medicine, University of Toronto, Toronto, Canada; Kensington Vision and Research Centre (JAM), Toronto, Canada; and Department of Ophthalmology (JAM), St. Michael's Hospital, Unity Health, Toronto, Canada. |
| Subject |
Adult; DNA Mutational Analysis; DNA, Mitochondrial / genetics; Electron Transport Complex I / genetics; Female; Humans; Male; Mitochondrial Proteins; Mutation; Optic Atrophy, Hereditary, Leber / diagnosis; Optic Atrophy, Hereditary, Leber / genetics; Pedigree |
| Date |
2024-06 |
| Date Digital |
2024-06 |
| References |
Engvall M, Kawasaki A, Carelli V, Wibom R, Bruhn H, Lesko N, Schober FA, Wredenberg A, Wedell A, Träisk F. Case report: a novel mutation in the mitochondrial MT-ND5 gene is associated with Leber hereditary optic neuropathy (LHON). Front Neurol. 2021;12:652590. Vinothkumar KR, Zhu J, Hirst J. Architecture of mammalian respiratory complex I. Nature. 2014;515:80-84. Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet. 2013;50:704-714. Mayorov V, Biousse V, Newman NJ, Brown MD. The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. Ann Neurol. 2005;58:807-811. Seong MW, Choi J, Park SS, Kim JY, Hwang JM. Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing. J Neurol Sci. 2017;375:301-303. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Publication Type |
Journal Article |
| Source |
Journal of Neuro-Ophthalmology, June 2024, Volume 44, Issue 2 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| ARK |
ark:/87278/s6k79j3z |
| Setname |
ehsl_novel_jno |
| ID |
2721538 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6k79j3z |
