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=0.0008) overall variation load per individual was noted among LHON patients versus controls. We reported for the first time, the association of M haplogroup (p=0.028) with LHON in this cohort.
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Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.
Genes (Basel)
November 2024
Department of Medicine and Surgery, University of Enna "Kore", Piazza dell'Università, 94100 Enna, Italy.
/: Optic neuropathies are a category of illnesses that ultimately cause damage to the optic nerve, leading to vision impairment and possible blindness. Disorders such as dominant optic atrophy (DOA), Leber hereditary optic neuropathy (LHON), and glaucoma demonstrate intricate genetic foundations and varied phenotypic manifestations. This narrative review study seeks to consolidate existing knowledge on the genetic and molecular mechanisms underlying ocular neuropathies, examine genotype-phenotype correlations, and assess novel therapeutic options to improve diagnostic and treatment methodologies.
View Article and Find Full Text PDFVisual Functions in Patients With Leber Hereditary Optic Neuropathy (LHON).
J Neuroophthalmol
December 2024
Exploration de la Vision et Neuro-Ophtalmologie (RF, VS), CHU de Lille, Lille, France; and University of Lille (QL, VS, MB), INSERM, CNRS, UMR-S 1172-Lab, Lille Neuroscience & Cognition, Lille, France.
Background: Most of the data on visual functions in Leber hereditary optic neuropathy (LHON) is based on patient questionnaires. Our study assessed the impact of LHON on visual function by testing facial recognition and execution of purposeful actions.
Methods: Twelve participants with LHON with central scotoma ranging from 5° to 20° and 12 unaffected age-matched controls were involved in our study.
Reprogramming patient-iPSC specific retinal organoids for deciphering epigenetic modifications of RNA methylation.
J Chin Med Assoc
December 2024
Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
Background: Induced pluripotent stem cell (iPSC) technology has emerged as a powerful tool for disease modeling, providing an innovative platform for investigating disease mechanisms. iPSC-derived organoids, including retinal organoids, offer patient-specific models that closely replicate in vivo cellular environments, making them ideal for studying retinal neurodegenerative diseases where retinal ganglion cells (RGCs) are impacted. N6-methyladenosine (m6A), a prevalent internal modification in eukaryotic mRNAs, plays a critical role in RNA metabolic processes such as splicing, stability, translation, and transport.
View Article and Find Full Text PDFClinical trials in Leber hereditary optic neuropathy: outcomes and opportunities.
Curr Opin Neurol
February 2025
Department of Ophthalmology, Emory University School of Medicine.
Purpose Of Review: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA disease characterised by sequential bilateral vision loss due to loss of retinal ganglion cells. The purpose of this review is to provide an update on the results of recent clinical trials for LHON, focusing on studies of idebenone and lenadogene nolparvovec gene therapy.
Recent Findings: Evidence from three clinical studies (RHODOS, RHODOS-OFU, and LEROS) suggest that idebenone should be started early and continued for at least 24 months.
Article Synopsis
- The study investigates the long-term safety and efficacy of lenadogene nolparvovec, a gene therapy for Leber hereditary optic neuropathy (LHON) caused by the MT-ND4 gene variant, enrolling patients for up to 5 years after treatment.
- Conducted between 2018 and 2022, the RESTORE trial followed patients who previously participated in two phase 3 studies, RESCUE and REVERSE, focusing on vision loss treatment; most participants were male with an average age of 35.9 years.
- Results indicated that 94.7% of participants completed the initial studies, and 72.4% completed the 5-year follow-up, with key outcomes
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