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https://www.readbyqxmd.com/read/29448286/-mitochondrial-dysfunctions-and-role-of-coenzyme-q10-in-patients-with-glaucoma
#1
Carl Erb, Katarzyna Konieczka
Mitochondrial function is closely linked to numerous aspects of eye health. Imbalance between the creation of energy and the development of reactive oxygen species (ROS) seems to be the cause of the development of mitochondrial dysfunctions. As a result of this energy deficit, the level of oxidative stress in the eye tissues increases, leading to numerous ophthalmic impairments. It is important to distinguish between primary mitochondrial eye diseases and secondary mitochondrial changes. Primary mitochondrial eye diseases, for example Leber's hereditary optic atrophy (LHON), retinitis pigmentosa and chronic progressive external ophthalmoplegia are caused by direct damage to mitochondrial function induced by defective genes, either located on mitochondrial DNA (mtDNA) or the DNA of the nucleus (nDNA)...
February 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29444077/peculiar-combinations-of-individually-non-pathogenic-missense-mitochondrial-dna-variants-cause-low-penetrance-leber-s-hereditary-optic-neuropathy
#2
Leonardo Caporali, Luisa Iommarini, Chiara La Morgia, Anna Olivieri, Alessandro Achilli, Alessandra Maresca, Maria Lucia Valentino, Mariantonietta Capristo, Francesca Tagliavini, Valentina Del Dotto, Claudia Zanna, Rocco Liguori, Piero Barboni, Michele Carbonelli, Veronica Cocetta, Monica Montopoli, Andrea Martinuzzi, Giovanna Cenacchi, Giuseppe De Michele, Francesco Testa, Anna Nesti, Francesca Simonelli, Anna Maria Porcelli, Antonio Torroni, Valerio Carelli
We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I. The pathogenic potential of these mtDNA haplotypes is supported by multiple evidences: first, the LHON phenotype is strictly inherited along the maternal line in one very large family; second, the combinations of mtDNA variants are unique to the two maternal lineages that are characterized by recurrence of LHON; third, the Complex I-dependent respiratory and oxidative phosphorylation defect is co-transferred from the proband's fibroblasts into the cybrid cell model...
February 14, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29427840/generation-of-patient-specific-induced-pluripotent-stem-cells-from-leber-s-hereditary-optic-neuropathy
#3
Huai-En Lu, Yi-Ping Yang, Yan-Ting Chen, You-Ren Wu, Chia-Lin Wang, Fu-Ting Tsai, De-Kuang Hwang, Tai-Chi Lin, Shih-Jen Chen, An-Guor Wang, Patrick C H Hsieh, Shih-Hwa Chiou
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. In this report, we generated an induced pluripotent stem cell (iPSCs) line, TVGH-iPSC-010-09, from the peripheral blood mononuclear cells of a female patient with Leber's hereditary optic neuropathy (LHON) by using the Sendai-virus delivery system. The resulting iPSCs retained the disease-causing mitochondrial DNA mutation, expressed pluripotent markers and could differentiate into the three germ layers...
January 31, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29387390/mutation-analysis-of-leber-s-hereditary-optic-neuropathy-using-a-multi-gene-panel
#4
Yu Dai, Chenghui Wang, Zhipeng Nie, Jiamin Han, Ting Chen, Xiaoxu Zhao, Cheng Ai, Yanchun Ji, Tao Gao, Pingping Jiang
The present study investigates the spectrum and incidence of mitochondrial DNA (mtDNA) mutations associated with Leber's hereditary optic neuropathy (LHON) in a Han population using a multi-gene panel with 46 LHON-associated mutations among 13 mitochondrial genes. A total of 23 mutations were observed in a cohort of 275 patients and 281 control subjects using multi-gene panel analysis. The causative mutations associated with LHON were identified to be m.11778G>A, m.14484T>C, m.3460 G>A, m.3635G>A, m...
January 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29384800/cardiac-disorders-in-patients-with-leber-hereditary-optic-neuropathy
#5
Christophe Orssaud
BACKGROUND: Cardiac abnormalities have been described in patients with Leber hereditary optic neuropathy (LHON). Some are life-threatening because of the risk of ventricular fibrillation and sudden death. The purpose of our study was to better characterize the cardiac abnormalities in a large patient cohort with LHON. METHODS: A retrospective study of the electrocardiogram (EKG) results performed on all patients with LHON evaluated at The Reference Center for Rare Diseases in Ophthalmology, Paris, France, from January 2015 to June 2017...
January 30, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29366807/bioactivity-and-gene-expression-profiles-of-hipsc-generated-retinal-ganglion-cells-in-mt-nd4-mutated-leber-s-hereditary-optic-neuropathy
#6
You-Ren Wu, An-Guor Wang, Yan-Ting Chen, Aliaksandr A Yarmishyn, Waradee Buddhakosai, Tien-Chun Yang, De-Kuang Hwang, Yi-Ping Yang, Chia-Ning Shen, Hsin-Chen Lee, Shih-Hwa Chiou, Chi-Hsien Peng, Shih-Jen Chen
Leber's hereditary optic neuropathy (LHON) is the maternally inherited mitochondrial disease caused by homoplasmic mutations in mitochondrial electron transport chain Complex I subunit genes. The mechanism of its incomplete penetrance is still largely unclear. In this study, we created the patient-specific human induced pluripotent stem cells (hiPSCs) from MT-ND4 mutated LHON affected patient, asymptomatic mutation carrier and healthy control, and differentiated them into retinal ganglion cells (RGCs). We found the defective neurite outgrowth in affected RGCs, but not in the carrier RGCs which had significant expression of SNCG gene...
January 20, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29346803/author-response-penetrance-of-the-lhon-mutation-m-11778g-a-may-depend-on-factors-other-than-haplotype-or-heteroplasmy-rate
#7
Nahid Akhtar Khan, Periyasamy Govindaraj, Nagasamy Soumittra, Sonika Sharma, Sundaramoorthy Srilekha, Selvakumar Ambika, Ayyasamy Vanniarajan, Angamuthu Kanikannan Meena, Megha S Uppin, Challa Sundaram, Parayil Sankaran Bindu, Narayanappa Gayathri, Arun B Taly, Kumarasamy Thangaraj
No abstract text is available yet for this article.
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346802/penetrance-of-the-lhon-mutation-m-11778g-a-may-depend-on-factors-other-than-the-haplotype-or-heteroplasmy-rate
#8
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346492/author-response-increased-mtdna-copy-number-protects-against-lhon
#9
Angelica Bianco, Luigi L Palese, Silvana Guerriero, Vittoria Petruzzella
No abstract text is available yet for this article.
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346491/increased-mtdna-copy-number-does-not-protect-against-lhon
#10
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29337205/increasing-mtdna-levels-as-therapy-for-mitochondrial-optic-neuropathies
#11
Eduardo Ruiz-Pesini, Sonia Emperador, Ester López-Gallardo, Carmen Hernandez-Ainsa, Julio Montoya
Leber hereditary optic neuropathy (LHON) is a rare, inherited mitochondrial disease. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. Primary open-angle glaucoma is a frequent, acquired optic neuropathy. Lowering intraocular pressure reduces disease progression. However, current methods to decelerate this progression are recognized as being inadequate. Therefore, there is a clear need to look for new therapeutic approaches. The growing evidence indicates that primary open-angle glaucoma can also be a mitochondrial optic neuropathy (MON)...
January 11, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29300239/mri-of-the-optic-nerves-and-chiasm-in-patients-with-leber-hereditary-optic-neuropathy
#12
Christelle Blanc, Françoise Heran, Christophe Habas, Yannick Bejot, José Sahel, Catherine Vignal-Clermont
BACKGROUND: The aim of this study was to characterize brain and orbital MRI features of patients with Leber hereditary optic neuropathy (LHON), with particular attention to the optic nerves and chiasm. METHOD: We studied a patient cohort with genetically confirmed LHON followed at 2 ophthalmologic hospitals in France between 2013 and 2015. High-resolution brain and orbital MRI studies were analyzed for each patient during the first 12 months after the onset of visual loss was analyzed...
January 3, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29249004/leber-hereditary-optic-neuropathy-and-longitudinally-extensive-transverse-myelitis
#13
C Bursle, K Riney, J Stringer, D Moore, G Gole, L S Kearns, D A Mackey, D Coman
Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications...
December 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29225014/leber-s-hereditary-optic-neuropathy-caused-by-a-mutation-in-mitochondrial-trnathr-in-eight-chinese-pedigrees
#14
Juanjuan Zhang, Yanchun Ji, Xiaoling Liu, Jie Chen, Bibin Wang, Minglian Zhang, Min-Xin Guan
PURPOSE: The purpose of this study was to investigate the pathophysiology underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial tRNA mutation. METHODS: Severn hundred ninety-seven Han Chinese subjects underwent clinical and genetic evaluation and analysis of mitochondrial DNA (mtDNA). The cybrid cell lines were constructed by transferring mitochondria from lymphoblastoid cell lines derived from a Chinese family into mtDNA-less (ρo) cells...
December 7, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29189152/the-progress-of-gene-therapy-for-leber-s-optic-hereditary-neuropathy
#15
Yong Zhang, Zhen Tian, Jiajia Yuan, Chang Liu, Hong Li Liu, Si Qi Ma, Bin Li
Leber's Optic Hereditary Neuropathy (LHON) is a common cause of teenaged blindness in both eyes for which there is currently no effective treatment. In 1871, the German ophthalmologist Theodor Leber was the first to describe the clinical characteristics of his namesake disease, and through unremitting efforts over the past 100 years, researchers have continued to increase their understanding of LHON. In recent years, using gene therapy, several groups have obtained breakthroughs in the treatment of the disease...
November 29, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29133642/frequency-of-primary-mutations-of-leber-s-hereditary-optic-neuropathy-patients-in-north-indian-population
#16
Anushree Mishra, Saranya Devi, Rohit Saxena, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury
PURPOSE: Leber's hereditary optic neuropathy (LHON) is an inherited optic neuropathy characterized by subacute painless vision loss. The majority of LHON is caused due to one of the three primary mutations in the mitochondrial DNA (m.G3460A, m.G11778A, and m.T14484C). The frequency of these mutations differs in different populations. The purpose of this study is to observe the frequency of three common primary mutations in the North Indian population. METHODS: Forty LHON patients within the age group of 10-50 years underwent molecular testing for primary mutations...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29133631/mitochondrial-genetics-and-therapeutic-overview-of-leber-s-hereditary-optic-neuropathy
#17
REVIEW
Agaath Hedina Manickam, Minu Jenifer Michael, Sivasamy Ramasamy
Leber's hereditary optic neuropathy (LHON) is a common inherited mitochondrial disorder that is characterized by the degeneration of the optic nerves, leading to vision loss. The major mutations in the mitochondrial genes ND1, ND4, and ND6 of LHON subjects are found to increase the oxidative stress experienced by the optic nerve cell, thereby leading to nerve cell damage. Accurate treatments are not available and drugs that are commercially available like Idebenone, EPI-743, and Bendavia with their antioxidant role help in reducing the oxidative stress experienced by the cell thereby preventing the progression of the disease...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29116953/identification-of-an-nd4-mutation-in-leber-hereditary-optic-neuropathy
#18
Qian Lu, Yi Guo, Junhui Yi, Xiong Deng, Zhijian Yang, Xiuhong Yuan, Hao Deng
SIGNIFICANCE: We identified a missense mutation, m.11778G>A (p.R340H), in the mitochondrially encoded NADH dehydrogenase 4 gene (ND4) in eight patients and three asymptomatic carriers, even though the incidence of this has been considered low in Chinese population. These results have implications for the families' genetic counseling and clinical management. PURPOSE: Leber hereditary optic neuropathy (LHON OMIM 535000) is one of the most common inherited optic neuropathies...
November 8, 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/29054473/mitochondrial-disorders-of-the-retinal-ganglion-cells-and-the-optic-nerve
#19
REVIEW
Josef Finsterer, Michelangelo Mancuso, Davide Pareyson, Jean-Marc Burgunder, Thomas Klopstock
OBJECTIVES: To summarise and discuss recent findings and future perspectives concerning mitochondrial disorders (MIDs) affecting the retinal ganglion cells and the optic nerve (mitochondrial optic neuropathy. MON). METHOD: Literature review. RESULTS: MON in MIDs is more frequent than usually anticipated. MON may occur in specific as well as non-specific MIDs. In specific and non-specific MIDs, MON may be a prominent or non-prominent phenotypic feature and due to mutations in genes located either in the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA)...
October 18, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29049835/the-photopic-negative-response-an-objective-measure-of-retinal-ganglion-cell-function-in-patients-with-leber-s-hereditary-optic-neuropathy
#20
Rustum Karanjia, Adriana Berezovsky, Paula Yuri Sacai, Nivea Nunes Cavascan, Henry Yuheng Liu, Samir Nazarali, Milton Nunes Moraes-Filho, Kirsten Anderson, Jeffrey Show Tran, Sung EunSong Watanabe, Milton Nunes Moraes, Federico Sadun, Anna Maria DeNegri, Piero Barboni, Carolina do Val Ferreira Ramos, Chiara La Morgia, Valerio Carelli, Rubens Belfort, Stuart Glenn Coupland, Solange Rios Salomao, Alfredo A Sadun
Purpose: The photopic negative response (PhNR) is a slow negative component of a flash photopic full-field ERG that has been shown to be specific for retinal ganglion cell (RGC) activity. Direct evaluation of RGC function is desirable in patients with Leber's hereditary optic neuropathy (LHON) in which the loss of central acuity can make it difficult to monitor patients with standard metrics. The purpose of this study was to evaluate the use of PhNR as an objective noninvasive clinical metric in LHON...
May 1, 2017: Investigative Ophthalmology & Visual Science
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