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Leber's hereditary optic

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https://www.readbyqxmd.com/read/28093355/evaluating-the-therapeutic-potential-of-idebenone-and-related-quinone-analogues-in-leber-hereditary-optic-neuropathy
#1
Patrick Yu-Wai-Man, Devorah Soiferman, David G Moore, Florence Burté, Ann Saada
Leber hereditary optic neuropathy (LHON) is an important cause of mitochondrial blindness among young adults. In this study, we investigated the potential of four quinone analogues (CoQ1, CoQ10, decylubiquinone and idebenone) in compensating for the deleterious effect of the m.11778G>A mitochondrial DNA mutation. The LHON fibroblast cell lines tested exhibited reduced cell growth, impaired mitochondrial bioenergetics and elevated levels of reactive oxygen species (ROS). Idebenone increased ATP production and reduced ROS levels, but the effect was partial and cell-specific...
January 13, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28081242/genetic-and-clinical-analyses-of-doa-and-lhon-in-304-chinese-patients-with-suspected-childhood-onset-hereditary-optic-neuropathy
#2
Yadi Li, Jie Li, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo
Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-phenotype characteristics of Chinese patients with suspected childhood-onset hereditary optic neuropathy. Genomic DNA and clinical data were collected from 304 unrelated Chinese probands with suspected hereditary optic neuropathy with an age of onset below 14 years...
2017: PloS One
https://www.readbyqxmd.com/read/28040497/a-review-of-mitochondrial-optic-neuropathies-from-inherited-to-acquired-forms
#3
Yasmine L Pilz, Sherry J Bass, Jerome Sherman
In recent years, the term mitochondrial optic neuropathy (MON) has increasingly been used within the literature to describe a group of optic neuropathies that exhibit mitochondrial dysfunction in retinal ganglion cells (RGCs). Interestingly, MONs include genetic aetiologies, such as Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), as well as acquired aetiologies resulting from drugs, nutritional deficiencies, and mixed aetiologies. Regardless of an inherited or acquired cause, patients exhibit the same clinical manifestations with selective loss of the RGCs due to mitochondrial dysfunction...
December 28, 2016: Journal of Optometry
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#4
Thomas C Hohman
As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to create animal models in which individual gene were altered to match the human mutations. The retina of these animals were then characterized to assess whether the mutated genes produced retinal phenotypes characteristic of disease-affected patients. Following the identification of a subpopulation of patients with the affected gene and the development of techniques for the viral gene transduction of retinal cells, it has become possible to deliver a copy of the normal gene into the retinal sites of the mutated genes...
December 30, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28027875/bipolar-cell-reduction-precedes-retinal-ganglion-neuron-loss-in-a-complex-1-knockout-mouse-model
#5
Lanying Song, Alfred Yu, Karl Murray, Gino Cortopassi
Inherited mitochondrial complex 1 deficiency causes Leber's hereditary Optic Neuropathy (LHON) and retinal ganglion cell (RGC) degeneration, and optic neuropathies are common in many inherited mitochondrial diseases. How mitochondrial defects pathomechanistically trigger optic neuropathy remains unclear. We observe that complex 1 -deficient Ndufs4-/- mice present with acute vision loss around p30, and this vision loss is coincident with an 'inflammatory wave'. In order to understand what causes the inflammatory wave we explored retinal pathology that occurs from p20-p30...
December 24, 2016: Brain Research
https://www.readbyqxmd.com/read/28005053/-leber-s-hereditary-optic-neuropathy-and-epilepsy-a-case-report
#6
A S Kotov, E V Gushchina, Yu V Matyuk, M N Borisova, M V Panteleeva, A V Shatalin
A clinical case of a young man with rapid bilateral visual impairment developed 2 months after the onset of generalized convulsive seizures is presented. The replacement of valproate to levetiracetam led to the remission of seizures, but the prognosis for vision remains poor, particularly given the pessimistic results of optical coherence tomography (OCT).
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27989883/whole-mitochondrial-genome-analysis-in-south-indian-patients-with-leber-s-hereditary-optic-neuropathy
#7
Bibhuti Ballav Saikia, Sushil Kumar Dubey, Mahesh Kumar Shanmugam, Periasamy Sundaresan
Leber's hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) associated neurodegenerative disorder of retinal ganglion cells. In this study, whole mitochondrial genome sequencing of 75 LHON patients and 40 controls was performed to identify the mutation frequency and haplogroup background of South Indian population. Analysis of mtDNA revealed 559 different variants in LHON patients, including 7 pathogenic mutations, 30 private, and 22 other disease associated variants. A significantly higher (p=0...
October 27, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27984598/-the-role-of-mt-nd1-m-3635g-a-mutation-in-leber-s-hereditary-optic-neuropathy
#8
Juanjuan Zhang, Zengjun Zhang, Runing Fu, Yanchun Ji, Pingping Jiang, Yi Tong, Jia Qu, Minxin Guan
OBJECTIVE: To investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON). METHODS: Biochemical characteristics including the activity of complex Ⅰ, ATP production and oxygen consumption rate among lymphoblastoid cell lines derived from 3 carriers, 3 affected matrilineal relatives of the families and 3 controls were compared. RESULTS: Comparison of mitochondrial functions in lymphoblastoid cell lines of the carriers, patients and controls showed a 51...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27974645/dysregulated-mitophagy-and-mitochondrial-organization-in-optic-atrophy-due-to-opa1-mutations
#9
Chunyan Liao, Neil Ashley, Alan Diot, Karl Morten, Kanchan Phadwal, Andrew Williams, Ian Fearnley, Lyndon Rosser, Jo Lowndes, Carl Fratter, David J P Ferguson, Laura Vay, Gerardine Quaghebeur, Isabella Moroni, Stefania Bianchi, Costanza Lamperti, Susan M Downes, Kamil S Sitarz, Padraig J Flannery, Janet Carver, Eszter Dombi, Daniel East, Matilde Laura, Mary M Reilly, Heather Mortiboys, Remko Prevo, Michelangelo Campanella, Matthew J Daniels, Massimo Zeviani, Patrick Yu-Wai-Man, Anna Katharina Simon, Marcela Votruba, Joanna Poulton
OBJECTIVE: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. METHODS: Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2 high throughput imaging systems, by visualizing colocalization of mitochondrial fragments with engulfing autophagosomes...
January 10, 2017: Neurology
https://www.readbyqxmd.com/read/27928414/leber-hereditary-optic-neuropathy-with-interval-of-visual-loss-greater-than-12-months
#10
Renata Cristina Ferreira Prado, Frederico Castelo Moura
A 28-year-old man presented with severe left visual loss and normal right visual acuity. The left fundus examination showed temporal pallor and complete absence of the nerve fibre layer (NFL) of papillomacular bundle. Right fundus examination showed focal loss of inferotemporal NFL. Magnetic resonance and serum aquaporin-4 antibody were negative. After 14 months of the initial visual involvement, the patient suffered subacute visual loss in contralateral eye. Genetic study revealed the 11778 point mitochondrial DNA (mtDNA) mutation associated with Leber hereditary optic neuropathy (LHON)...
October 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27928405/trauma-associated-leber-hereditary-optic-neuropathy
#11
Supanut Apinyawasisuk, Jane W Chan, Anthony C Arnold
A 19-year-old man developed visual loss in the left eye 1 day following a martial arts kick to the head. Vision worsened over a week, when visual loss was noted in the right eye without further trauma. The fundus was initially normal, but visual field testing showed temporal depression right eye with diffuse depression left eye, and traumatic chiasmopathy was suspected. Magnetic resonance imaging (MRI) of the brain demonstrated an enlarged chiasm with intrinsic signal abnormality, but no enhancement. Treatment with intravenous corticosteroids and hyperbaric oxygen therapy did not result in visual improvement...
August 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27928393/the-optical-coherence-tomographic-profile-of-leber-hereditary-optic-neuropathy
#12
Thomas R Hedges, Marisa Gobuty, Richard A Manfready, Natalie Erlich-Malona, Caitlin Monaco, Carlos E Mendoza-Santiesteban
The objective of this study was to describe the changes in the retinal ganglion cell complex (GCC) relative to the retinal nerve fibre layer (RNFL) over time in Leber hereditary optic neuropathy (LHON) patients. Average RNFL and GCC thickness was measured in seven patients in the early acute (123, 68.4 μm), late acute (113.5, 57.4 μm), and chronic (72.7, 50.8 μm) phases. Patients showed thinning of the GCC with RNFL swelling in the early acute phase. GCC thinning became severe within weeks and persisted...
June 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27904503/stem-cell-ophthalmology-treatment-study-scots-bone-marrow-derived-stem-cells-in-the-treatment-of-leber-s-hereditary-optic-neuropathy
#13
Jeffrey N Weiss, Steven Levy, Susan C Benes
The Stem Cell Ophthalmology Treatment Study (SCOTS) is currently the largest-scale stem cell ophthalmology trial registered at ClinicalTrials.gov (identifier: NCT01920867). SCOTS utilizes autologous bone marrow-derived stem cells (BMSCs) to treat optic nerve and retinal diseases. Treatment approaches include a combination of retrobulbar, subtenon, intravitreal, intra-optic nerve, subretinal, and intravenous injection of autologous BMSCs according to the nature of the disease, the degree of visual loss, and any risk factors related to the treatments...
October 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27881490/new-micellar-electrokinetic-chromatographic-method-for-analyzing-idebenone-in-pediatric-formulations
#14
Mario Contin, Fabián Buontempo, Cristian García Becerra, Cecilia Dobrecky, Silvia Lucangioli, Valeria Tripodi
A novel, simple and reliable method based on micellar electrokinetic chromatography with ultraviolet detection was developed to analyze idebenone in a pediatric formulation. Idebenone is a synthetic short chain benzoquinone that acts as an electron carrier in the mitochondrial electron transport chain facilitating the production of adenosine triphosphate. It can be found in two different redox states that differ in their physiological properties. Idebenone has been investigated as a treatment in several neurological disorders like Friedreich's ataxia, Leber's hereditary optic neuropathy, mitochondrial encephalomyopathies and senile dementia...
November 23, 2016: Journal of Chromatographic Science
https://www.readbyqxmd.com/read/27870803/three-dimensional-characteristics-of-four-macular-intraretinal-layer-thicknesses-in-symptomatic-and-asymptomatic-carriers-of-g11778a-mutation-with-leber-s-hereditary-optic-neuropathy
#15
Shenghai Huang, Qi Chen, Qingkai Ma, Xinting Liu, Fan Lu, Meixiao Shen
PURPOSE: To characterize by spectral domain optical coherence tomography the three-dimensional thicknesses of four macular intraretinal layers in symptomatic and asymptomatic carriers of G11778A mutation with Leber's hereditary optic neuropathy. METHODS: Twenty-five eyes (7 symptomatic eyes and 18 asymptomatic eyes) of patients with Leber's hereditary optic neuropathy from one Chinese family and 16 normal eyes were enrolled. Macular radial scans by spectral domain optical coherence tomography and custom software produced intraretinal three-dimensional thickness maps...
December 2016: Retina
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#16
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#17
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27853297/changes-in-choroidal-thickness-follow-the-rnfl-changes-in-leber-s-hereditary-optic-neuropathy
#18
Enrico Borrelli, Giacinto Triolo, Maria Lucia Cascavilla, Chiara La Morgia, Giovanni Rizzo, Giacomo Savini, Nicole Balducci, Paolo Nucci, Rosa Giglio, Fatemeh Darvizeh, Vincenzo Parisi, Francesco Bandello, Alfredo A Sadun, Valerio Carelli, Piero Barboni
Leber's hereditary optic neuropathy (LHON) is typically characterized by vascular alterations in the acute phase. The aim of this study was to evaluate choroidal changes occurring in asymptomatic, acute and chronic stages of LHON. We enrolled 49 patients with LHON, 19 with Dominant Optic Atrophy (DOA) and 22 healthy controls. Spectral Domain-Optical Coherence Tomography (SD-OCT) scans of macular and peripapillary regions were performed in all subjects, to evaluate macular and peripapillary choroidal thickness, and retinal nerve fiber layer (RNFL) thicknes...
November 17, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27847334/investigating-leber-s-hereditary-optic-neuropathy-cell-models-and-future-perspectives
#19
REVIEW
Elona Jankauskaitė, Ewa Bartnik, Agata Kodroń
Leber's hereditary optic neuropathy (LHON) was the first human disease found to be associated with a mitochondrial DNA (mtDNA) point mutation. The most common LHON mutations are 11778G>A, 3460G>A or 14484T>C. The most common clinical features of LHON are optic nerve and retina atrophy. The affected tissue is not available for studies, therefore a variety of other cell types are used. However, all models face difficulties and limitations in mitochondrial disease research. The advantages and disadvantages of different cell models used to study LHON, recent advances in animal model generation and novel approaches in this field are discussed...
November 12, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27843288/leber-s-hereditary-optic-neuropathy-is-multiorgan-not-mono-organ
#20
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is a multisystem disorder additionally involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system...
2016: Clinical Ophthalmology
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