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
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
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
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
Clinical Neurology
Yesim Beckmann, Cihat Uzunkopru, Asli Subasioglu
Summary: This study found that progressive visual worsening in multiple sclerosis patients with optic neuritis may be influenced by mitochondrial genetic mutations. For those with severe or bilateral visual loss without recovery, screening for Leber's hereditary optic neuropathy genetic mutations is recommended.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2021)
Article
Cell Biology
Alberto Danese, Simone Patergnani, Alessandra Maresca, Camille Peron, Andrea Raimondi, Leonardo Caporali, Saverio Marchi, Chiara La Morgia, Valentina Del Dotto, Claudia Zanna, Angelo Iannielli, Alice Segnali, Ivano Di Meo, Andrea Cavaliere, Magdalena Lebiedzinska-Arciszewska, Mariusz R. Wieckowski, Andrea Martinuzzi, Milton N. Moraes-Filho, Solange R. Salomao, Adriana Berezovsky, Rubens Belfort, Christopher Buser, Fred N. Ross-Cisneros, Alfredo A. Sadun, Carlo Tacchetti, Vania Broccoli, Carlotta Giorgi, Valeria Tiranti, Valerio Carelli, Paolo Pinton
Summary: Patients with Leber's hereditary optic neuropathy (LHON) exhibit sustained abnormal autophagy and compartment-specific mitophagy activity, disrupting mitochondrial homeostasis and leading to defective bioenergetics and excessive reactive oxygen species production. Modulating autophagy and mitochondrial biogenesis can counteract this pathological mechanism.
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
Ophthalmology
Xiaofen Jin, Juanjuan Zhang, Qiuzi Yi, Feilong Meng, Jialing Yu, Yanchun Ji, Jun Q. Mo, Yi Tong, Pingping Jiang, Min-Xin Guan
Summary: This study investigated the synergic interaction between LHON-associated ND1 and YARS2 mutations, revealing that the mutations lead to greater mitochondrial defects and increased autophagy. The ND1 mutation altered protein structure and function, while the YARS2 mutation affected protein stability. Cells harboring both mutations exhibited more severe deficiencies in mitochondrial function and showed higher levels of autophagy compared to cells with only one mutation.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
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
Ophthalmology
Juanjuan Zhang, Yanchun Ji, Jie Chen, Man Xu, Guoping Wang, Xiaorui Ci, Bing Lin, Jun Q. Mo, Xiangtian Zhou, Min-Xin Guan
Summary: Our study highlights the crucial role of the m.3460G>A mutation in the pathogenesis of LHON, characterized by mitochondrial dysfunction and alterations in apoptosis and mitophagy.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(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
Multidisciplinary Sciences
Ghada Al-Kafaji, Maram A. Alharbi, Hasan Alkandari, Abdel Halim Salem, Moiz Bakhiet
Summary: By analyzing the mitochondrial genome sequencing data from a cohort of Saudi individuals, this study found that LHON mtDNA mutations may play a role in the pathogenesis or genetic predisposition to MS in the Arab population.
SCIENTIFIC REPORTS
(2022)
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
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
Multidisciplinary Sciences
Paula I. Buonfiglio, Sebastian Menazzi, Liliana Francipane, Vanesa Lotersztein, Veronica Ferreiro, Ana Belen Elgoyhen, Viviana Dalamon
Summary: The present study investigated the spectrum and analysis of mitochondrial DNA (mtDNA) variants in an Argentinean cohort with Leber hereditary optic neuropathy (LHON). Molecular confirmation of the diagnosis was established in 32% of cases through the identification of disease-causing variants. A total of 54 variants were observed in 100 patients tested with direct sequencing analysis. The study highlights the importance of standard molecular methods for genetic diagnosis, with NGS tests being reserved for patients with negative results.