The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Mazunin I.O.

Immanuel Kant Baltic Federal University, 14 Nevskogo St., Kaliningrad, Russian Federation, 236016

Volodko N.V.

University of Alberta, 116 St. and 85 Ave., Edmonton, AB, Canada, T6G 2R3

Leber hereditary optic neuropathy

Authors:

Mazunin I.O., Volodko N.V.

More about the authors

Journal: Russian Annals of Ophthalmology. 2018;134(2): 92‑97

Read: 11231 times


To cite this article:

Mazunin IO, Volodko NV. Leber hereditary optic neuropathy. Russian Annals of Ophthalmology. 2018;134(2):92‑97. (In Russ.)
https://doi.org/10.17116/oftalma2018134292-96

References:

  1. Leber T. Uber hereditare und congenital-angelegte Sehnervenleiden. Arch Ophthalmol. 1871;17:249-291.
  2. Wallace D, Singh G, Lott M, Hodge J, Schurr T, Lezza A, Elsas L, Nikoskelainen E. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science. 1988;242:1427-1430. https://doi.org/10.1126/science.3201231
  3. Yu-Wai-Man P, Griffiths P, Chinnery P. Mitochondrial optic neuropathies — disease mechanisms and therapeutic strategies. Prog Retin Eye Res. 201;30(2):81-114. https://doi.org/10.1016/j.preteyeres.2010.11.002
  4. Hirano M. Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass. Brain. 2014;1:37(2):308-309. https://doi.org/10.1093/brain/awu005
  5. Abu-Amero K. Leber’s Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited. Middle East Afr J Ophthalmol. 2011;18(1):17-23. https://doi.org/10.4103/0974-9233.75880
  6. DiMauro S, Schon E, Carelli V, Hirano M. The clinical maze of mitochondrial neurology. Nat Rev Neurol. 2013;9(8):429-444. https://doi.org/10.1038/nrneurol.2013.126
  7. Koilkonda R, Guy J. Leber’s Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside. J Ophthalmol. 2011:179412. https://doi.org/10.1155/2011/179412
  8. Tonska K, Kurzawa M, Ambroziak AM, Korwin-Rujna M, Szaflik JP, Grabowska E, Szaflik J, Bartnik E. A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients. Mitochondrion. 2008;8(5-6):383-388. https://doi.org/10.1016/j.mito.2008.08.002
  9. Wei Q, Zhou X, Yang L, Sun Y, Zhou J, Li G, Jiang R, Lu F, Qu J, Guan M. The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber’s hereditary optic neuropathy and hearing loss. Biochem Biophys Res Commun. 2007;357(4):910-916. https://doi.org/10.1016/j.bbrc.2007.04.025
  10. Melberg A, Moslemi AR, Palm O, Raininko R, Stålberg E, Oldfors A. A patient with two mitochondrial DNA mutations causing PEO and LHON. Eur J Med Genet. 2009;52(1):47-48. https://doi.org/10.1016/j.ejmg.2008.10.004
  11. Zhang S, Wang L, Hao Y, Wang P, Hao P, Yin K, Wang Q, Liu M. T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber’s hereditary optic neuropathy in a Chinese family. Mitochondrion. 2008;8(3):205-210. https://doi.org/10.1016/j.mito.2008.02.003
  12. Mather M, Rottenberg H. Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON. FEBS Lett. 1998;433(1-2):93-97.
  13. Volod’ko NV, L’vova MA, Starikovskaia EB, Derbeneva OA, Bychkov IIu, Mikhaĭlovskaia IE, Pogozheva IV, Fedotov FF, Soyan GV, Procaccio V, Wallace DC, Sukernik RI.Spectrum of pathogenic mtDNA mutations in Leber hereditary optic neuropathy families from Siberia. Genetika. 2006; 42(1):89-97. (In Russ.)
  14. Sofronova J, Ilinsky Y, Orishchenko K, Chupakhin E, Lunev E, Mazunin I. Detection of Mutations in Mitochondrial DNA by Droplet Digital PCR. Biochemistry (Mosc). 2016;81(10):1031-1037. (In Russ.) https://doi.org/10.1134/S0006297916100011
  15. Giordano C, Montopoli M, Perli E, Orlandi M, Fantin M, Ross-Cisneros FN, Caparrotta L, Martinuzzi A, Ragazzi E, Ghelli A, Sadun A, d’Amati G, Carelli V. Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy. Brain. 2011;134(1):220-234. https://doi.org/10.1093/brain/awq276
  16. Rizzo J. Adenosine triphosphate deficiency: a genre of optic neuropathy. Neurology. 1995;45(1):11-16.
  17. Riordan-Eva P, Sanders M, Govan G, Sweeney M, Da Costa J, Harding A. The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 1995; 118(2):319-337.
  18. Benarroch E. Adenosine triphosphate: a multifaceted chemical signal in the nervous system. Neurology. 2010;74(7):601-607. https://doi.org/10.1212/WNL.0b013e3181d03762
  19. Karanjia R, Chahal J, Ammar M, Sadun A. Review: Treatment of Leber’s Hereditary Optic Neuropathy. Curr Pharm Des. 2017. [Epub ahead of print].
  20. Lyseng-Williamson K. Idebenone: A Review in Leber’s Hereditary Optic Neuropathy. Drugs. 2016;76(7):805-813. https://doi.org/10.1007/s40265-016-0574-3
  21. Gueven N. Idebenone for Leber’s hereditary optic neuropathy. Drugs Today (Barc). 2016;52(3):173-181. https://doi.org/10.1358/dot.2016.52.3.2463564
  22. Guy J, Qi X, Pallotti F, Schon E, Manfredi G, Carelli V, Martinuzzi A, Hauswirth W, Lewin A. Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. Ann Neurol. 2002;52(5):534-542. https://doi.org/10.1002/ana.10354
  23. Bonnet C, Kaltimbacher V, Ellouze S, Augustin S, Bénit P, Forster V, Rustin P, Sahel J, Corral-Debrinski M. Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or V subunits. Rejuvenation Res. 2007;10(2):127-144. https://doi.org/10.1089/rej.2006.0526
  24. Park J, Li Y, Bai Y. Yeast NDI1 improves oxidative phosphorylation capacity and increases protection against oxidative stress and cell death in cells carrying a Leber’s hereditary optic neuropathy mutation. Biochim Biophys Acta. 2007;1772(5):533-542. https://doi.org/10.1016/j.bbadis.2007.01.009
  25. Ellouze S, Augustin S, Bouaita A, Bonnet C, Simonutti M, Forster V, Picaud S, Sahel J, Corral-Debrinski M. Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. Am J Hum Genet. 2008;83(3):373-387. https://doi.org/10.1016/j.ajhg.2008.08.013
  26. Bacman S, Williams S, Pinto M, Peralta S, Moraes C. Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs. Nat Med. 2013;19(9):1111-1113. https://doi.org/10.1038/nm.3261
  27. Reddy P, Ocampo A, Suzuki K, Luo J, Bacman S, Williams S, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, Del Mar O’Callaghan M, Campistol J, Zhao H, Campistol J, Moraes C, Izpisua Belmonte J. Selective elimination of mitochondrial mutations in the germline by genome editing. Cell. 2015;161(3):459-469. https://doi.org/10.1016/j.cell.2015.03.051
  28. Yu H, Koilkonda R, Chou T, Porciatti V, Ozdemir S, Chiodo V, Boye S, Boye S, Hauswirth W, Lewin A, Guy J. Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber’s hereditary optic neuropathy in a mouse model. Proc Natl Acad Sci USA. 2012;109(20):1238-1247. https://doi.org/10.1073/pnas.1119577109
  29. Yu H, Koilkonda R, Chou T, Porciatti V, Mehta A, Hentall I, Chiodo V, Boye S, Hauswirth W, Lewin A, Guy J. Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice. Proc Natl Acad Sci USA. 2015;112(42):5689-5698. https://doi.org/10.1073/pnas.1506129112
  30. Feuer W, Schiffman J, Davis J, Porciatti V, Gonzalez P, Koilkonda R, Yuan H, Lalwani A, Lam B, Guy J. Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results. Ophthalmology. 2016;123(3):558-570. https://doi.org/10.1016/j.ophtha.2015.10.025
  31. Wan X, Pei H, Zhao MJ, Yang S, Hu WK, He H, Ma SQ, Zhang G, Dong XY, Chen C, Wang DW, Li B. Efficacy and Safety of rAAV2-ND4 Treatment for Leber’s Hereditary Optic Neuropathy. Sci Rep. 2016;6:21587. https://doi.org/10.1038/srep21587
  32. Yang S, Ma SQ, Wan X, He H, Pei H, Zhao MJ, Chen C, Wang DW, Dong XY, Yuan JJ, Li B. Long-term outcomes of gene therapy for the treatment of Leber’s hereditary optic neuropathy. EBioMedicine. 2016;10:258-268. https://doi.org/10.1016/j.ebiom.2016.07.002

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.