The genetics of leber hereditary optic neuropathy--prototype of an inherited optic neuropathy with mitochondrial dysfunction

Seminars in Ophthalmology
Knut Eichhorn-Mulligan, Dean M Cestari

Abstract

Leber Hereditary Optic Neuropathy is a maternally inherited condition that is characterized by acute or subacute bilateral loss of vision, usually in otherwise healthy young individuals. Several point mutations in the mitochondrial genome have been identified in patients with the condition. Scientific advances into a better understanding of the molecular pathogenesis have been hampered by the lack of an animal model for the disease. This article summarizes what is known about the clinical features, epidemiology and genetics of Leber Hereditary Optic Neuropathy and reviews recent experiments scientists have used in addressing the many unanswered questions that remain about the disease.

References

Sep 23, 1978·Lancet·P E Fine
Jun 1, 1977·Annals of Neurology·L J DorfmanR L Sogg
Sep 30, 1992·Biochemical and Biophysical Research Communications·D R JohnsR D Park
Jan 1, 1992·European Neurology·M T DottiA Federico
Jun 15, 1991·American Journal of Ophthalmology·N J NewmanD C Wallace
May 1, 1989·Journal of Neurology, Neurosurgery, and Psychiatry·A G KermodeW I McDonald
Apr 1, 1985·Acta Ophthalmologica·T Seedorff
Dec 22, 1984·Lancet·E NikoskelainenH Kalimo
Nov 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·R E GilesD C Wallace
Apr 9, 1981·Nature·S AndersonI G Young
Feb 1, 1996·Australian and New Zealand Journal of Ophthalmology·C ChanE Byrne
Oct 1, 1996·Brain : a Journal of Neurology·R M Charlmers, A E Harding
Dec 10, 1999·Nature·P SutovskyG Schatten
Dec 6, 2000·Proceedings of the National Academy of Sciences of the United States of America·J E SlighD C Wallace
Jun 11, 2002·Methods : a Companion to Methods in Enzymology·Carl A Pinkert, Ian A Trounce
Jun 18, 2002·Nature Genetics·Maria FalkenbergClaes M Gustafsson
Jan 9, 2003·American Journal of Human Genetics·P Yu-Wai-ManP F Chinnery
Apr 28, 2004·Molecular Reproduction and Development·Vassilina A SokolovaVadim B Vasilyev
Nov 10, 2004·Eye·N J Newman, V Biousse
Apr 30, 2005·Nature Reviews. Genetics·Robert W Taylor, Doug M Turnbull
Mar 28, 2006·American Journal of Ophthalmology·Liesbeth SpruijtChristine E M de Die-Smulders
Apr 29, 2006·Molecular Therapy : the Journal of the American Society of Gene Therapy·Samuel G JacobsonWilliam W Hauswirth
Jun 30, 2006·Biochemical and Biophysical Research Communications·Yan-Hong SunMin-Xin Guan
Oct 31, 2006·Journal of Human Genetics·Nopasak PhasukkijwatanaPatcharee Lertrit
Jan 2, 2007·Investigative Ophthalmology & Visual Science·Xiaoping QiJohn Guy
Jan 16, 2007·Current Topics in Developmental Biology·Ian A Trounce, Carl A Pinkert
Apr 5, 2007·European Journal of Human Genetics : EJHG·Anu PuomilaEeva Nikoskelainen

❮ Previous
Next ❯

Citations

Jun 12, 2010·Neurobiology of Aging·Anita LakatosUNKNOWN Alzheimer's Disease Neuroimaging Initiative
Mar 10, 2016·Seminars in Ophthalmology·Nailyn RasoolDean M Cestari
Sep 3, 2010·Ophthalmic Genetics·Periasamy SundaresanJohn H Fingert

❮ 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.