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https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/27803870/a-meta-analysis-of-the-association-between-different-genotypes-g11778a-t14484c-and-g3460a-of-leber-hereditary-optic-neuropathy-and-visual-prognosis
#5
Dong-Yu Guo, Xia-Wei Wang, Nan Hong, Yang-Shun Gu
AIM: To analyze the influences of different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy (LHON) on visual prognosis. METHODS: After a systematic literature search, all relevant studies evaluating the association between the three primary mutations of LHON and visual prognosis were included. All statistical tests were calculated with Revman 5.2 and STATA 12.0. RESULTS: Ten independent studies were included finally...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27798429/leber-hereditary-optic-neuropathy-visual-recovery-in-a-patient-with-the-rare-m-3890g-a-point-mutation
#6
Jared J Murray, Kaitlyn W Nolan, Collin McClelland, Michael S Lee
A 15-year-old boy experienced painless vision loss in the left eye of unknown duration. Leber hereditary optic neuropathy (LHON) was suspected, despite negative testing for the 3 most common pathogenic gene mutations and idebenone 300 mg 3 times daily was prescribed. Nine months later, the patient developed right eye involvement. Complete mitochondrial genome analysis revealed 2 rare variants-m.3890G>A of the MT-ND1 gene and m.8417C>A of the MT-ATP8 gene. The former has been described in severe infantile Leigh syndrome and LHON; the latter is of unknown significance...
October 27, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/27787713/leber-hereditary-optic-neuropathy-a-mitochondrial-disease-unique-in-many-ways
#7
Rui Bi, Ian Logan, Yong-Gang Yao
Leber hereditary optic neuropathy (LHON) was the first mitochondrial disease to be identified as being caused by mutations in the mitochondrial DNA (mtDNA). This disease has been studied extensively in the past two decades, particularly in Brazilian, Chinese and European populations; and many primary mutations have been reported. However, the disease is enigmatic with many unique features, and there still are several important questions to be resolved. The incomplete penetrance, the male-biased disease expression and the prevalence in young adults all defy a proper explanation...
October 28, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/27756254/severe-inflammatory-disease-activity-14%C3%A2-months-after-cessation-of-natalizumab-in-a-patient-with-leber-s-optic-neuropathy-and-multiple-sclerosis-a-case-report
#8
Trygve Holmøy, Antonie G Beiske, Svetozar Zarnovicky, Aija Zuleron Myro, Egil Røsjø, Emilia Kerty
BACKGROUND: Leber's hereditary optic neuropathy (LHON) co-occuring with multiple sclerosis-like disease (LHON-MS) is suggested to be a separate disease entity denoted Harding's disease. Little is known about the response to initiation and discontinuation of potent immunomodulatory treatment in LHON-MS. CASE PRESENTATION: We describe a LHON-MS patient with 27 years disease duration who developed severe disease activity peaking 14 months after discontinuation of natalizumab, with extensive new inflammatory lesions throughout the brain and in the spinal cord resembling immune inflammatory reconstitution syndrome...
October 18, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27749593/evaluation-of-leber-s-hereditary-optic-neuropathy-patients-prior-to-a-gene-therapy-clinical-trial
#9
Shuo Yang, Hong Yang, Si-Qi Ma, Shuai-Shuai Wang, Heng He, Min-Jian Zhao, Bin Li
Gene therapy may be a promising approach for the treatment of Leber hereditary optic neuropathy. The aim of this study was to evaluate patients with this condition who were recruited into an upcoming gene therapy clinical trial and to assess any changes in the detection parameters to provide support for the clinical trial. Sixteen patients with Leber hereditary optic neuropathy were evaluated using visual function tests 12 months before the initiation of gene therapy. Then, the results of visual acuity (VA), visual field (VF), RNFL (retinal nerve fiber layer) thickness, and Pattern-reversal Visual evoked potential (PR-VEP) were compared and analyzed...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27746671/a-real-time-arms-pcr-high-resolution-melt-curve-assay-for-the-detection-of-the-three-primary-mitochondrial-mutations-in-leber-s-hereditary-optic-neuropathy
#10
Siobhan Eustace Ryan, Fergus Ryan, Veronica O'Dwyer, Derek Neylan
PURPOSE: Approximately 95% of patients who are diagnosed with Leber's hereditary optic neuropathy (LHON) have one of three mitochondrial point mutations responsible for the disease, G3460A, G11778A, and T14484C. The purpose of this study was to develop a novel multiplex real-time amplification-refractory mutation system (ARMS) PCR combined with high-resolution melt curves to identify the individual mutations involved. The study aimed to provide a more robust, cost- and time-effective mutation detection strategy than that offered with currently available methods...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27741086/vision-recovery-despite-retinal-ganglion-cell-loss-in-leber-s-hereditary-optic-neuropathy
#11
Ann L Webber
PURPOSE: To report vision recovery in a single case of Leber's hereditary optic neuropathy (LHON) (mtDNA14484/ND6 mutation) with longitudinal documentation of retinal ganglion cell layer by ocular coherence tomography (OCT) that includes the pre-onset, acute, and chronic stages of vision loss. CASE REPORT: We report LHON in a 16-year-old male patient with Type 1 diabetes and known and documented family history of LHON. The patient presented with best-corrected visual acuities of right eye 20/150 and left eye 20/25-...
December 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/27721048/characterization-of-a-leber-s-hereditary-optic-neuropathy-lhon-family-harboring-two-primary-lhon-mutations-m-11778g-a-and-m-14484t-c-of-the-mitochondrial-dna
#12
Claudia B Catarino, Uwe Ahting, Mirjana Gusic, Arcangela Iuso, Birgit Repp, Katrin Peters, Saskia Biskup, Bettina von Livonius, Holger Prokisch, Thomas Klopstock
Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that usually leads to acute or subacute bilateral central vision loss. In 95% of cases, LHON is caused by one of three primary mutations of the mitochondrial DNA (mtDNA), m.11778G>A in the MT-ND4 gene, m.14484T>C in the MT-ND6 gene, or m.3460G>A in the MT-ND1 gene. Here we characterize clinically, genetically, and biochemically a LHON family with multiple patients harboring two of these primary LHON mutations, m.11778G>A homoplasmic and m...
October 6, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27696015/a-neurodegenerative-perspective-on-mitochondrial-optic-neuropathies
#13
REVIEW
Patrick Yu-Wai-Man, Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli
Mitochondrial optic neuropathies constitute an important cause of chronic visual morbidity and registrable blindness in both the paediatric and adult population. It is a genetically heterogeneous group of disorders caused by both mitochondrial DNA (mtDNA) mutations and a growing list of nuclear genetic defects that invariably affect a critical component of the mitochondrial machinery. The two classical paradigms are Leber hereditary optic neuropathy (LHON), which is a primary mtDNA disorder, and autosomal dominant optic atrophy (DOA) secondary to pathogenic mutations within the nuclear gene OPA1 that encodes for a mitochondrial inner membrane protein...
December 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27631475/macular-retinal-sublayer-thicknesses-in-g11778a-leber-hereditary-optic-neuropathy
#14
Byron L Lam, Samuel P Burke, Mindy X Wang, Gloria A Nadayil, Potyra R Rosa, Giovanni Gregori, William J Feuer, Sophia Cuprill-Nilson, Ruth Vandenbroucke, Xiaojun Zhang, John Guy
BACKGROUND AND OBJECTIVE: To determine macular retinal sublayer thickness changes in G11778A Leber hereditary optic neuropathy (LHON). PATIENTS AND METHODS: The authors performed a cross-sectional study by segmenting spectral-domain Cirrus OCT (Carl Zeiss Meditec, Dublin, CA) 512 × 128 macular cube scans from a prospective, observational study of G11778A LHON. The thickness of the retinal sublayers of LHON affected subjects and asymptomatic carriers were compared to those of a normal group...
September 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/27613247/identification-and-characterization-of-the-novel-point-mutation-m-3634a-g-in-the-mitochondrial-mt-nd1-gene-associated-with-lhon-syndrome
#15
Lidia Carreño-Gago, Josep Gamez, Yolanda Cámara, Elena Alvarez de la Campa, Juan Sebastian Aller-Alvarez, Dulce Moncho, Maria Salvado, Alicia Galan, Xavier de la Cruz, Tomàs Pinós, Elena García-Arumí
Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by bilateral acute or subacute progressive central visual loss. Most cases of LHON syndrome are caused by point mutations in the MT-ND1, MT-ND4, and MT-ND6 genes. Here, we report a novel homoplasmic mutation in the MT-ND1 gene (m.3634A>G, p.Ser110Gly) in a patient with the classical clinical features of LHON syndrome. Several observations support the idea that the mutation is pathogenic and involved in the clinical phenotype of the patient: 1) The mutation affected a highly conserved amino acid, 2) A pathogenic mutation in the same amino acid (m...
September 7, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27582625/multiplex-maldi-tof-ms-detection-of-mitochondrial-variants-in-brazilian-patients-with-hereditary-optic-neuropathy
#16
Paulo Maurício do Amôr Divino Miranda, Sueli Matilde da Silva-Costa, Juliane Cristina Balieiro, Marcela Scabello Amaral Fernandes, Rogério Marins Alves, Andrea Trevas Maciel Guerra, Ana Maria Marcondes, Edi Lúcia Sartorato
PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to the disease. The aim of this study was to identify the prevalence and spectrum of LHON mtDNA mutations, including the haplogroup, in a cohort of Brazilian patients with optic neuropathy and to evaluate the usefulness of iPLEX Gold/matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) technology in detecting LHON mutations...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27497748/identification-of-small-molecules-that-improve-atp-synthesis-defects-conferred-by-leber-s-hereditary-optic-neuropathy-mutations
#17
Sandipan Datta, Alexey Tomilov, Gino Cortopassi
Inherited mitochondrial complex I mutations cause blinding Leber's hereditary optic neuropathy (LHON), for which no curative therapy exists. A specific biochemical consequence of LHON mutations in the presence of trace rotenone was observed: deficient complex I-dependent ATP synthesis (CIDAS) and mitochondrial O2 consumption, proportional to the clinical severity of the three primary LHON mutations. We optimized a high-throughput assay of CIDAS to screen 1600 drugs to 2, papaverine and zolpidem, which protected CIDAS in LHON cells concentration-dependently...
September 2016: Mitochondrion
https://www.readbyqxmd.com/read/27476418/movement-disorders-in-mitochondrial-diseases
#18
C Tranchant, M Anheim
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function...
August 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27459664/retinal-ganglion-cell-and-inner-plexiform-layer-loss-correlate-with-visual-acuity-loss-in-lhon-a-longitudinal-segmentation-oct-analysis
#19
Stephen J Moster, Mark L Moster, Molly Scannell Bryan, Robert C Sergott
PURPOSE: Describe changes in the retina as vision loss progresses in Leber's Hereditary Optic Neuropathy (LHON) using spectral-domain optical coherence tomography (SD-OCT) autosegmentation, and determine if relationship exists between retinal changes and vision loss. METHODS: From patient records we identified nine LHON patients who underwent periodic neuro-ophthalmologic examinations and high-resolution SD-OCT as part of their care. We describe the impact of LHON progression on each retinal layer, and the relationship between these structural changes and visual acuity using generalized estimating equations and nonparametric tests...
July 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27449621/previously-unclassified-mutation-of-mtdna-m-3472t-c-evidence-of-pathogenicity-in-leber-s-hereditary-optic-neuropathy
#20
N L Sheremet, T A Nevinitsyna, N V Zhorzholadze, I A Ronzina, Y S Itkis, T D Krylova, P G Tsygankova, V A Malakhova, E Y Zakharova, A V Tokarchuk, A A Panteleeva, E M Karger, K G Lyamzaev, S E Avetisov
Leber's hereditary optic neuropathy (LHON) refers to a group of mitochondrial diseases and is characterized by defects of the mitochondrial electron transport chain and decreased level of oxidative phosphorylation. The list of LHON primary mtDNA mutations is regularly updated. In this study, we describe the homoplasmic nucleotide substitution m.3472T>C in the MT-ND1 (NADH-ubiquinone oxidoreductase chain 1) gene and specific changes in cell metabolism in a patient with LHON and his asymptomatic sister. To confirm the presence of mutation-related mitochondrial dysfunction, respiration of skin fibroblasts and platelets from the patient and his sister was studied, as well as the mitochondrial potential and production of reactive oxygen species in the skin fibroblasts...
July 2016: Biochemistry. Biokhimii︠a︡
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