Cargando…

Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients

Recent studies have shown that mtDNA background could affect the clinical expression of Leber hereditary optic neuropathy (LHON). We analyzed the mitochondrial DNA (mtDNA) variation of 304 Chinese patients with m.11778G>A (sample #1) and of 843 suspected LHON patients who lack the three primary m...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, A-Mei, Jia, Xiaoyun, Bi, Rui, Salas, Antonio, Li, Shiqiang, Xiao, Xueshan, Wang, Panfeng, Guo, Xiangming, Kong, Qing-Peng, Zhang, Qingjiong, Yao, Yong-Gang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3216987/ https://www.ncbi.nlm.nih.gov/pubmed/22110754 http://dx.doi.org/10.1371/journal.pone.0027750

Ejemplares similares

Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T>C
por: Yu, Dandan, et al.
Publicado: (2010)

Non-Pharmaceutical Interventions against COVID-19 Causing a Lower Trend in Age of LHON Onset
por: Zheng, Yuxi, et al.
Publicado: (2023)

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy
por: Li, Yadi, et al.
Publicado: (2017)

LHON: Mitochondrial Mutations and More
por: Kirches, E
Publicado: (2011)

Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia
por: Wang, Qin, et al.
Publicado: (2010)

Is Mitochondrial tRNA(phe) Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?
por: Zhang, A-Mei, et al.
Publicado: (2011)

Electrophysiological and Structural Changes in Chinese Patients with LHON
por: Wang, Min, et al.
Publicado: (2020)

Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups
por: Quigley, Clare, et al.
Publicado: (2023)

Variable response to Idebenone in LHON is multifactorial
por: Finsterer, Josef, et al.
Publicado: (2023)

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers
por: Bianco, Angelica, et al.
Publicado: (2018)

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
por: Emperador, Sonia, et al.
Publicado: (2019)

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
por: Chen, Yabin, et al.
Publicado: (2013)

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)
por: Buonfiglio, Paula I., et al.
Publicado: (2023)

Early identification of LHON carriers may improve outcome
por: Finsterer, Josef
Publicado: (2019)

LHON needs to be genetically diagnosed and the idebenone effect quantified
por: Finsterer, Josef, et al.
Publicado: (2019)

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON
por: Hudson, Gavin, et al.
Publicado: (2011)

Increased Protein S-Glutathionylation in Leber’s Hereditary Optic Neuropathy (LHON)
por: Zhou, Lei, et al.
Publicado: (2020)

MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy
por: Gerber, Sylvie, et al.
Publicado: (2021)

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation
por: Piotrowska-Nowak, Agnieszka, et al.
Publicado: (2020)

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
por: Xiao, Xueshan, et al.
Publicado: (2011)

Brain Gray Matter Atrophy and Functional Connectivity Remodeling in Patients With Chronic LHON
por: Tian, Qin, et al.
Publicado: (2022)

The Eye Drop Preservative Benzalkonium Chloride Potently Induces Mitochondrial Dysfunction and Preferentially Affects LHON Mutant Cells
por: Datta, Sandipan, et al.
Publicado: (2017)

A Simple Oligonucleotide Biochip Capable of Rapidly Detecting Known Mitochondrial DNA Mutations in Chinese Patients with Leber’S Hereditary Optic Neuropathy (LHON)
por: Du, Wei-Dong, et al.
Publicado: (2011)

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity
por: Cruz-Bermúdez, Alberto, et al.
Publicado: (2016)

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects
por: Baglivo, Mirko, et al.
Publicado: (2023)

Functional MRI study in a case of Charles Bonnet syndrome related to LHON
por: Vacchiano, V., et al.
Publicado: (2019)

Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia
por: Petrovic Pajic, Sanja, et al.
Publicado: (2023)

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma
por: Zhang, Xiaohui, et al.
Publicado: (2009)

Mutation spectrum of PAX6 in Chinese patients with aniridia
por: Zhang, Xiaohui, et al.
Publicado: (2011)

Alteration within the Hippocampal Volume in Patients with LHON Disease—7 Tesla MRI Study
por: Grochowski, Cezary, et al.
Publicado: (2020)

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
por: Wang, Juan, et al.
Publicado: (2010)

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration
por: Angebault, Claire, et al.
Publicado: (2011)

Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)
por: Guy, John, et al.
Publicado: (2008)

Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives
por: Peron, Camille, et al.
Publicado: (2021)

Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family
por: Pojda-Wilczek, Dorota, et al.
Publicado: (2022)

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma
por: Jiang, Dan, et al.
Publicado: (2013)

Novel RS1 mutations associated with X-linked juvenile retinoschisis
por: YI, JUNHUI, et al.
Publicado: (2012)

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
por: Li, Lin, et al.
Publicado: (2011)

An evaluation of OPTC and EPYC as candidate genes for high myopia
por: Wang, Panfeng, et al.
Publicado: (2009)

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)
por: Engvall, Martin, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_3nhuqldckgita1n1vad5rv2ll5