Review
Genetics & Heredity
Qingyue Ma, Ying Sun, Ke Lei, Wenjuan Luo
Summary: This article summarizes the recent research progress on LHON, aiming to identify the genetic pathogenesis and clinical treatment points.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2023)
Article
Medicine, General & Internal
Kanchalika Sathianvichitr, Benjaporn Sigkaman, Niphon Chirapapaisan, Poramaet Laowanapiban, Tanyatuth Padungkiatsagul, Supanut Apinyawasisuk, Juthamat Witthayawerasak, Wanicha Chuenkongkaew
Summary: This study is the first to investigate the characteristics and prognosis of Leber's hereditary optic neuropathy (LHON) patients in Southeast Asia. The study found that the most common mutation in Thai LHON patients is G11778A, followed by T14484C. Male gender, older age, and the G11778A mutation are associated with poor vision outcomes.
ANNALS OF MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Hui-Chen Cheng, Sheng-Chu Chi, Chiao-Ying Liang, Jenn-Yah Yu, An-Guor Wang
Summary: Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease caused by mitochondria DNA (mtDNA) mutation, with incomplete penetrance and male prevalence. Whole exome sequencing (WES) revealed that many mitochondria-related nuclear genes are involved in the penetrance of LHON, highlighting the potential of WES in identifying candidate genes in molecular genetics.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Chuan-bin Sun, Hai-xia Bai, Dan-ni Xu, Qing Xiao, Zhe Liu
Summary: This study reported a case of isolated LHON with a low mutant load of m.13513G>A mutation, and recommended NGS of the full mitochondrial DNA genome for LHON suspects when targeted PCR amplification for main LHON primary mutations was negative.
FRONTIERS IN NEUROLOGY
(2021)
Article
Ophthalmology
Giacomo Calzetti, Chiara La Morgia, Marco Cattaneo, Arturo Carta, Francesca Bosello, Giulia Amore, Michele Carbonelli, Maria Lucia Cascavilla, Stefano Gandolfi, Valerio Carelli, Leopold Schmetterer, Hendrik P. N. Scholl, Piero Barboni
Summary: This study aimed to evaluate optic disk perfusion and neural retinal structure in patients with subacute LHON and LHON carriers. The findings suggest that high blood flow at the optic disk during the early subacute stage may be the result of vasodilation as compensation to mitochondrial impairment caused by LHON. Additionally, optic disk perfusion measured by LSFG shows promise as a biomarker for LHON diagnosis and monitoring.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Mirko Baglivo, Alessia Nasca, Eleonora Lamantea, Stefano Vinci, Manuela Spagnolo, Silvia Marchet, Holger Prokisch, Alessia Catania, Costanza Lamperti, Daniele Ghezzi
Summary: Leber's hereditary optic neuropathy (LHON) is a disease that causes visual loss due to damage to the optical nerve. In this study, the respiratory parameters of LHON patients' fibroblasts were evaluated, revealing reduced respiration in untreated conditions and no significant improvement after idebenone supplementation. The responsiveness of cultured cells to idebenone treatment did not fully reflect in vivo data, indicating the need for further evaluation of cellular respiration as a potential biomarker for LHON prognosis and treatment response.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
George Balta, Georgiana Cristache, Andreea Diana Barac, Nicoleta Anton, Ileana Ramona Barac
Summary: This study shares the experience in diagnosing and managing patients with Leber's hereditary optic neuropathy, demonstrating positive outcomes with long-term Idebenone use. The findings contradict previous medical literature, as the female patient showed favorable evolution despite delayed diagnosis.
Article
Neuroimaging
Ling Wang, Yi Ji, Hao Ding, Qin Tian, Ke Fan, Dapeng Shi, Chunshui Yu, Wen Qin
Summary: The study used arterial spin labeling (ASL) to investigate abnormal cerebral blood flow (CBF) in patients with Leber's hereditary optic neuropathy (LHON) and its associations with disease duration and neuro-ophthalmological impairment. The results showed differences in brain regions of LHON patients, including the left sensorimotor and bilateral visual areas. LHON patients had lower CBF in the bilateral calcarine compared to healthy controls. Chronic LHON patients also showed lower CBF in the left middle frontal gyrus, sensorimotor cortex, and temporal-partial junction. Disease duration and neuro-ophthalmological impairments were found to affect the metabolism of non-visual areas.
BRAIN IMAGING AND BEHAVIOR
(2023)
Article
Chemistry, Multidisciplinary
Yi Wang, Li-Fan Hu, Peng-Fei Cui, Lian-Yu Qi, Lei Xing, Hu-Lin Jiang
Summary: Leber's hereditary optic neuropathy (LHON) is a rare inherited blindness caused by mutations in mitochondrial DNA. The traditional chemotherapeutic agent Idebenone only alleviates symptoms, and in situ mitochondrial gene therapy is challenging. A novel pathologically responsive mitochondrial gene delivery vector named TISUH has been developed, showing promising potential for LHON treatment by targeting diseased mitochondria and releasing functional genes for correcting genetic abnormalities.
ADVANCED MATERIALS
(2021)
Article
Neurosciences
Ming-ming Sun, Huan-fen Zhou, Qiao Sun, Hong-en Li, Hong-juan Liu, Hong-lu Song, Mo Yang, Da Teng, Shi-hui Wei, Quan-gang Xu
Summary: This study investigated the clinical and radiologic characteristics of Leber's hereditary optic neuropathy (LHON) associated with other diseases. LHON was found to be accompanied by multiple diseases, especially different subtypes of optic neuritis. Additionally, the study observed idiopathic orbital inflammatory syndrome (IOIS) and compression optic neuropathy in relation to LHON for the first time.
FRONTIERS IN HUMAN NEUROSCIENCE
(2022)
Article
Clinical Neurology
Yuri Seo, Tae Young Kim, Dongju Won, Saeam Shin, Jong Rak Choi, Seung-Tae Lee, Byung Joo Lee, Hyun Taek Lim, Sueng-Han Han, Jinu Han
Summary: This study evaluated the clinical characteristics and causative genetic variants in autosomal optic atrophy using next-generation sequencing (NGS). The results showed that NGS had a diagnostic rate of 31.6% in patients with optic atrophy, with higher rates observed in patients with early onset. The major genetic causes were found in OPA1 and NR2F1 genes.
FRONTIERS IN NEUROLOGY
(2022)
Review
Biochemistry & Molecular Biology
Samuel J. Spiegel, Alfredo A. Sadun
Summary: This review summarizes the management strategies and treatment principles for Leber's Hereditary Optic Neuropathy (LHON), including preventive recommendations, current medical and supportive treatments, and emerging evidence for future potential therapeutics.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Medicine, General & Internal
Yi-Ping Yang, Shania Foustine, Yu-Jer Hsiao, En-Tung Tsai, Fu-Ting Tsai, Chia-Lin Wang, Yu-Ling Ko, Hsiao-Yun Tai, Yi-Ching Tsai, Chang-Hao Yang, Yun-Ju Fu, An-Guor Wang, Yueh Chien
Summary: In 2018, the prevalence of optic neuropathies was estimated to be 115 per 100,000 population. Leber's Hereditary Optic Neuropathy (LHON) is a hereditary mitochondrial disease first identified in 1871. It is associated with three mtDNA point mutations, namely G11778A, T14484, and G3460A, affecting NADH dehydrogenase subunits. The absence of NADH dehydrogenase due to the mutations leads to ATP production cessation, resulting in the generation of reactive oxygen species and apoptosis of retinal ganglion cells. Additionally, environmental factors such as smoking and alcohol consumption are considered risk factors for LHON. Gene therapy and human induced pluripotent stem cells (hiPSCs) have shown promise in LHON research.
JOURNAL OF THE CHINESE MEDICAL ASSOCIATION
(2023)
Article
Biochemistry & Molecular Biology
Branislav Rovcanin, Jasna Jancic, Jelena Pajic, Marija Rovcanin, Janko Samardzic, Vesna Djuric, Blazo Nikolic, Nikola Ivancevic, Ivana Novakovic, Vladimir Kostic
Summary: The study aimed to evaluate oxidative stress in LHON patients and healthy individuals by assessing biomarkers in plasma. High levels of oxidative stress were found in LHON patients, indicating a potential role in the pathophysiology of the disease.
JOURNAL OF MOLECULAR NEUROSCIENCE
(2021)
Article
Neurosciences
Yi Ji, Ling Wang, Hao Ding, Qin Tian, Ke Fan, Dapeng Shi, Chunshui Yu, Wen Qin
Summary: The study aimed to investigate neurovascular coupling abnormalities in LHON and their associations with clinical manifestations. The findings suggest that LHON patients have neurovascular dyscoupling in the visual cortex as well as the middle temporal gyrus and sensorimotor cortex, indicating that this may be an important neurological mechanism of LHON.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Genetics & Heredity
Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C. Walter
BMC MEDICAL GENETICS
(2013)
Article
Clinical Neurology
Robert Fledrich, Beate Schlotter-Weigel, Tuuli J. Schnizer, Sven P. Wichert, Ruth M. Stassart, Gerd Meyer Zu Hoerste, Axel Klink, Bernhard G. Weiss, Uwe Haag, Maggie C. Walter, Bernd Rautenstrauss, Walter Paulus, Moritz J. Rossner, Michael W. Sereda
Letter
Clinical Neurology
Kamil S. Sitarz, Patrick Yu-Wai-Man, Angela Pyle, Joanna D. Stewart, Bernd Rautenstrauss, Pavel Seeman, Mary M. Reilly, Rita Horvath, Patrick F. Chinnery
Article
Biochemistry & Molecular Biology
Lorena Fernandez-Martinez, Stef Letteboer, Christian Y. Mardin, Nicole Weisschuh, Eugen Gramer, Bernhard H. F. Weber, Bernd Rautenstrauss, Paulo A. Ferreira, Friedrich E. Kruse, Andre Reis, Ronald Roepman, Francesca Pasutto
EUROPEAN JOURNAL OF HUMAN GENETICS
(2011)
Article
Genetics & Heredity
Annelies Rotthier, Anke Penno, Bernd Rautenstrauss, Michaela Auer-Grumbach, Georg M. Stettner, Bob Asselbergh, Kim Van Hoof, Heinrich Sticht, Nicolas Levy, Vincent Timmerman, Thorsten Hornemann, Katrien Janssens
Article
Genetics & Heredity
J. Haberlova, R. Mazanec, P. Ridzon, L. Barankova, G. Nuernberg, P. Nuernberg, H. Sticht, K. Huehne, P. Seeman, B. Rautenstrauss
JOURNAL OF NEUROGENETICS
(2011)
Article
Genetics & Heredity
Pupak Derakhshandeh-Peykar, Jalil Alivi, Arash Hossein-nezhad, Bernd Rautenstrauss, Reza Ebrahimzadeh Vesal, Afsoon Doriani
JOURNAL OF NEUROGENETICS
(2011)
Article
Clinical Neurology
Maria Marttila, Bernd Rautenstrauss, Kathrin Huehne, Virpi Laitinen, Kari Majamaa, Mikko Karppa
JOURNAL OF NEUROLOGY
(2012)
Letter
Clinical Neurology
Andreas Hermann, Kay Engelandt, Bernd Rautenstrauss, Heinz Reichmann, Eleonore Jacobasch
JOURNAL OF NEUROLOGY
(2013)
Article
Clinical Neurology
T. Freilinger, N. Ackl, A. Ebert, C. Schmidt, B. Rautenstrauss, M. Dichgans, A. Danek
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2011)
Article
Clinical Neurology
Rita Horvath, Elke Holinski-Feder, Vivienne C. M. Neeve, Angela Pyle, Helen Griffin, Deephthi Ashok, Charlotte Foley, Gavin Hudson, Bernd Rautenstrauss, Gudrun Nuernberg, Peter Nuernberg, Joerg Kortler, Birgit Neitzel, Ingelore Baessmann, Thahira Rahman, Bernard Keavney, John Loughlin, Sophie Hambleton, Benedikt Schoser, Hanns Lochmueller, Mauro Santibanez-Koref, Patrick F. Chinnery
MOVEMENT DISORDERS
(2012)
Editorial Material
Clinical Neurology
Bernd Rautenstrauss
Article
Clinical Neurology
Dana Safka Brozkova, Sona Nevsimalova, Radim Mazanec, Bernd Rautenstrauss, Pavel Seeman
NEUROMUSCULAR DISORDERS
(2012)
Article
Neurosciences
Alexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, Nancy L. Kuntz, Cecile Halbert, Brigitte Chabrol, Henry Houlden, Tanya Stojkovic, Brenda A. Schulman, Bernd Rautenstrauss, Pascale Bomont
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2014)