Leber Hereditary Optic Neuropathy-Light at the End of the Tunnel?

Asia-Pacific Journal of Ophthalmology
Ungsoo Samuel KimPatrick Yu-Wai-Man

Abstract

Leber hereditary optic neuropathy (LHON) is an important cause of mitochondrial blindness. The majority of patients harbor one of three mitochondrial DNA (mtDNA) point mutations, m.3460G>A, m.11778G>A, and m.14484T>C, which all affect complex I subunits of the mitochondrial respiratory chain. The loss of retinal ganglion cells in LHON is thought to arise from a combination of impaired mitochondrial oxidative phosphorylation resulting in decreased adenosine triphosphate (ATP) production and increased levels of reactive oxygen species. Treatment options for LHON remain limited, but major advances in mitochondrial neuroprotection, gene therapy, and the prevention of transmission of pathogenic mtDNA mutations will hopefully translate into tangible benefits for patients affected by this condition and their families.

References

Oct 29, 2002·Annals of Neurology·John GuyAlfred S Lewin
Jan 9, 2003·American Journal of Human Genetics·P Yu-Wai-ManP F Chinnery
Jul 11, 2006·Biochimica Et Biophysica Acta·Giorgio LenazAnnalisa Biondi
Apr 29, 2008·The New England Journal of Medicine·Albert M MaguireJean Bennett
Sep 6, 2008·American Journal of Human Genetics·Sami EllouzeMarisol Corral-Debrinski
Nov 13, 2008·Journal of Medical Genetics·P Yu-Wai-ManP F Chinnery
Mar 4, 2009·Investigative Ophthalmology & Visual Science·Matthew Anthony KirkmanPatrick Yu-Wai-Man
Apr 24, 2009·Investigative Ophthalmology & Visual Science·John GuyWilliam W Hauswirth
Jun 16, 2009·Brain : a Journal of Neurology·Matthew Anthony KirkmanPatrick Francis Chinnery
Jul 27, 2011·Brain : a Journal of Neurology·Thomas KlopstockPatrick F Chinnery
Aug 4, 2011·Brain : a Journal of Neurology·Valerio CarelliPiero Barboni
Mar 23, 2012·The New England Journal of Medicine·Werner J H KoopmanJan A M Smeitink
Sep 5, 2012·Nature Reviews. Neurology·Nancy J Newman
Jul 3, 2013·Nature Reviews. Neurology·Gerald PfefferPatrick F Chinnery
Dec 27, 2013·Brain : a Journal of Neurology·Carla GiordanoValerio Carelli
Apr 26, 2014·PLoS Genetics·Patrick F ChinneryDouglass M Turnbull
Jan 30, 2015·The New England Journal of Medicine·Gráinne S GormanDoug M Turnbull
Feb 19, 2015·Documenta Ophthalmologica. Advances in Ophthalmology·Martina Jarc-VidmarMarko Hawlina
Mar 27, 2015·EMBO Reports·Edward H MorrowDamian K Dowling
Mar 24, 2016·The British Journal of Ophthalmology·Patrick Yu-Wai-Man
Apr 27, 2016·Investigative Ophthalmology & Visual Science·Xitiz ChamlingDonald J Zack
May 4, 2016·EMBO Molecular Medicine·Ainsley J NewsonAnthony Wrigley
Dec 14, 2016·The New England Journal of Medicine·Patrick F Chinnery, Massimo Zeviani
Apr 8, 2017·Reproductive Biomedicine Online·Mina AlikaniMartin H Johnson
Apr 8, 2017·Reproductive Biomedicine Online·John ZhangTaosheng Huang
Jun 27, 2017·Current Opinion in Ophthalmology·Neringa Jurkute, Patrick Yu-Wai-Man
Sep 9, 2017·Cell Stem Cell·Annelien L Bredenoord, John B Appleby
Oct 11, 2017·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Valerio CarelliPiero Barboni
Feb 11, 2018·Ophthalmology·Catherine VignalJosé-Alain Sahel
Apr 20, 2018·Oxford Journal of Legal Studies·Rosamund Scott, Stephen Wilkinson

❮ Previous
Next ❯

Citations

Aug 21, 2018·Asia-Pacific Journal of Ophthalmology·Prem S Subramanian, Anthony C Arnold
Feb 1, 2019·Cells·Priyanka Sharma, Harini Sampath
Aug 3, 2020·Metabolic Brain Disease·Agnieszka Piotrowska-NowakEwa Bartnik
Jun 8, 2021·Frontiers in Neurology·Ungsoo Samuel KimPatrick Yu-Wai-Man

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.