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International Foundation for Optic Nerve Disease

P. O. Box 777, Cornwall NY 12518, USA
Phone/Fax: (845) 5348606


Reviews of LHON treatment prospects:

Somewhat against the grain of the narrow drug centred 'silver bullet' paradigm currently dominating medical research and therapy is another call for long overdue research on the safety and efficacy of diet therapy. For example, not enough research on ketogenic diets in LHON has occurred since Douglas Wallace's proposal in 2010, 'Mitochondrial Energetics and Therapeutics', where he outlines and critiques metabolic therapies for mitochondrial diseases to date and discusses the revival of ketogenic diets and a more systemic approach as potential therapy. This approach is gaining popularity in many major diseases. So it is important for LHON carriers to know if this approach is safe for them and possibly preventative for various illness including LHON. Maybe a mouse fodder trial is the next step? Maybe survey of insulin resistance in LHON carriers and affected? Coffee anyone? Since we know Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy, shouldn't we find all avenues to support it?

Storoni M, Robert MP, Plant GT. The therapeutic potential of a calorie-restricted ketogenic diet for the management of Leber hereditary optic neuropathy. Nutr Neurosci. 2019 Mar;22(3):156-164. doi: 10.1080/1028415X.2017.1368170. Epub 2017 Oct 10. PMID:28994349 DOI: 10.1080/1028415X.2017.1368170

Some research on the benefits of ketosis on the optic nerve and nervous system (then caution followed by coffee):

Sonia Emperador, Ester López-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M. Pilar Bayona-Bafaluy & Eduardo Ruiz-Pesini. Orphanet Journal of Rare Diseases volume 14, Article number: 150 (2019). Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.

Zarnowski T, Tulidowicz-Bielak M, Zarnowska I, Mitosek-Szewczyk K, Wnorowski A, Jozwiak K, Gasior M, Turski WA. Kynurenic Acid and Neuroprotective Activity of the Ketogenic Diet in the Eye. Curr Med Chem. 2017;24(32):3547-3558. doi: 10.2174/0929867324666170509120257. PMID: 28486923 DOI: 10.2174/0929867324666170509120257

Harun-Or-Rashid M, Pappenhagen N, Palmer P, Smith MA, Gevorgyan V, Wilson GN, Crish SD, Inman DM. Structural and Functional Rescue of Chronic Metabolically Stressed Optic Nerves through Respiration. J Neurosci. 2018 May 30;38(22):5122-5139. doi: 10.1523/JNEUROSCI.3652-17.2018. Epub 2018 May 14. PMID: 29760184 PMCID: PMC5977447 DOI: 10.1523/JNEUROSCI.3652-17.2018

Pflanz NC, Daszkowski AW, James KA, Mihic SJ. Ketone body modulation of ligand-gated ion channels. Neuropharmacology. 2019 Apr;148:21-30. doi: 10.1016/j.neuropharm.2018.12.013. Epub 2018 Dec 15. PMID 30562540 DOI: 10.1016/j.neuropharm.2018.12.013

Hasan-Olive MM, Lauritzen KH, Ali M, Rasmussen LJ, Storm-Mathisen J, Bergersen LH. A Ketogenic Diet Improves Mitochondrial Biogenesis and Bioenergetics via the PGC1α-SIRT3-UCP2 Axis. Neurochem Res. 2019 Jan;44(1):22-37. doi: 10.1007/s11064-018-2588-6. Epub 2018 Jul 19. PMID 30027365

Bajracharya R1, Youngson NA2, Ballard JWO3. Dietary Macronutrient Management to Treat Mitochondrial Dysfunction in Parkinson's Disease. Int J Mol Sci. 2019 Apr 15;20(8). pii: E1850. doi: 10.3390/ijms20081850. PMC6514887

Lauritzen KH, Hasan-Olive MM, Regnell CE, Kleppa L, Scheibye-Knudsen M, Gjedde A, Klungland A, Bohr VA, Storm-Mathisen J, Bergersen LH. A ketogenic diet accelerates neurodegeneration in mice with induced mitochondrial DNA toxicity in the forebrain. Neurobiol Aging. 2016 Dec;48:34-47. doi: 10.1016/j.neurobiolaging.2016.08.005. Epub 2016 Aug 18.

Vandenberghe C, St-Pierre V, Courchesne-Loyer A, Hennebelle M, Castellano CA, Cunnane SC. Caffeine intake increases plasma ketones: an acute metabolic study in humans. Can J Physiol Pharmacol. 2017 Apr;95(4):455-458. doi: 10.1139/cjpp-2016-0338. Epub 2016 Nov 25. PMID 28177691

In Leber Hereditary Optic Neuropathy— Light at the End of the Tunnel? Asia-Pacific Journal of Ophthalmology Volume 7, Number 4, July/August 2018. Ungsoo Samuel Kim, MD, PhD, Neringa Jurkute, MD, FEBO, and our IFOND board member Patrick Yu-Wai-Man, PhD, FRCOphth, outline modes of Mitochondrial protection, Mitochondrial biogenesis, Gene Therapy, Mitochondrial replacement therapy, and Pluripotent Stem cell therapy.

In Current and Emerging Treatment Modalities for Leber’s Hereditary Optic Neuropathy: A Review of the Literature. Adv Ther. 2018; 35(10): 1510–1518. The authors review the literature and summarize treatment trials.

Is there treatment for Leber Hereditary Optic Neuropathy? Curr Opin Ophthalmol. 2015 Nov; 26(6): 450–457. Jason H. Peragallo, MD and Nancy J. Newman, MD review treatment.

Neringa Jurkutea and Patrick Yu-Wai-Man. Leber hereditary optic neuropathy: bridging the translational gap. Curr Opin Ophthalmol. 2017 Sep; 28(5): 403–409. Published online 2017 Aug 10. doi: 10.1097/ICU.0000000000000410 PMCID: PMC5562441 PMID: 28650878

More generally:

Michio Hirano, Valentina Emmanuele, and Catarina M Quinzii. Emerging Therapies for Mitochondrial Diseases. Essays Biochem. 2018 Jul 20; 62(3): 467–481. Published online 2018 Jul 20. doi: 10.1042/EBC20170114 PMCID: PMC6104515 NIHMSID: NIHMS984793 PMID: 29980632 PMC6104515

Valero T. Mitochondrial biogenesis: pharmacological approaches. Curr Pharm Des. 2014;20(35):5507-9. DOI: 10.2174/138161282035140911142118 PMID: 24606795

Carelli V, La Morgia C. Clinical syndromes associated with mtDNA mutations: where we stand after 30 years. Essays Biochem. 2018 Jul 20;62(3):235-254. doi: 10.1042/EBC20170097. Print 2018 Jul 20. PMID: 30030360

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