Cargando…

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

Leber hereditary optic neuropathy is a primary mitochondrial disease characterized by acute visual loss due to the degeneration of retinal ganglion cells. In this study, we describe a patient carrying a rare missense heteroplasmic variant in MT-ND1, NC_012920.1:m.4135T>C (p.Tyr277His) manifesting...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rákosníková, Tereza, Kelifová, Silvie, Štufková, Hana, Lokvencová, Kateřina, Lišková, Petra, Kousal, Bohdan, Honzík, Tomáš, Hansíková, Hana, Martínek, Václav, Tesařová, Markéta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233053/ https://www.ncbi.nlm.nih.gov/pubmed/37274791 http://dx.doi.org/10.3389/fgene.2023.1182288

Ejemplares similares

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
por: Štufková, Hana, et al.
Publicado: (2022)

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions
por: Anteneová, Nicole, et al.
Publicado: (2020)

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
por: Danhelovska, Tereza, et al.
Publicado: (2020)

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
por: Farolfi, Martina, et al.
Publicado: (2021)

Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation
por: Ondruskova, Nina, et al.
Publicado: (2020)

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
por: Skopkova, Martina, et al.
Publicado: (2023)

Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells
por: Daňhelovská, Tereza, et al.
Publicado: (2021)

Microarray and qPCR Analysis of Mitochondrial Metabolism Activation during Prenatal and Early Postnatal Development in Rats and Humans with Emphasis on CoQ(10) Biosynthesis
por: Krizova, Jana, et al.
Publicado: (2021)

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
por: Stenton, Sarah L., et al.
Publicado: (2022)

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry
por: Pecina, Petr, et al.
Publicado: (2014)

4135 Digital Mental Health Interventions for PTSD & Resilience: A Systematic Review
por: Torres, Marie, et al.
Publicado: (2020)

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
por: Kousal, Bohdan, et al.
Publicado: (2021)

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study
por: Rücklová, Kristina, et al.
Publicado: (2021)

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synthase deficiency
por: Čížková, Alena, et al.
Publicado: (2008)

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
por: Dudakova, Lubica, et al.
Publicado: (2021)

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
por: Slaba, Katerina, et al.
Publicado: (2020)

Pathogenicity of Variant m.13528A>G in MT-ND5 in Leber’s Hereditary Optic Neuropathy Is Unsupported
por: Finsterer, Josef, et al.
Publicado: (2023)

Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease
por: Rodinova, Marie, et al.
Publicado: (2019)

Response to “Pathogenicity of Variant m.13528A>G in MT-ND5 in Leber’s Hereditary Optic Neuropathy Is Unsupported”
por: Pandya, Bhadra U., et al.
Publicado: (2023)

JND4135, a New Type II TRK Inhibitor, Overcomes TRK xDFG and Other Mutation Resistance In Vitro and In Vivo
por: Wang, Jie, et al.
Publicado: (2022)

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)

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy
por: Newman, Nancy J, et al.
Publicado: (2022)

A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies
por: Askeland, Georgina, et al.
Publicado: (2018)

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
por: Pfeffer, Gerald, et al.
Publicado: (2013)

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
por: Peverelli, Lorenzo, et al.
Publicado: (2021)

Diagnosing Leber's Hereditary Optic Neuropathy Requires Documentation of a Causative mtDNA Variant
por: Finsterer, Josef
Publicado: (2023)

Structure and Function of the Photosystem Supercomplexes
por: Gao, Jinlan, et al.
Publicado: (2018)

Supercomplex formation boosts respiration
por: den Brave, Fabian, et al.
Publicado: (2020)

Leber
Publicado: (2011)

Leber
por: Cerwenka, Herwig, et al.
Publicado: (2016)

Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy
por: Zhang, Juanjuan, et al.
Publicado: (2021)

Comparable respiratory activity in attached and suspended human fibroblasts
por: Zdrazilova, Lucie, et al.
Publicado: (2022)

Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C
por: Dvorakova, Veronika, et al.
Publicado: (2014)

Proof of Polyakov conjecture on supercomplex plane
por: Kachkachi, M, et al.
Publicado: (1994)

The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing’s syndrome
por: Ježková, Jana, et al.
Publicado: (2019)

New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/MT-ND4 Mutation Associated with Leber’s Hereditary Optic Neuropathy
por: Musiani, Francesco, et al.
Publicado: (2022)

Frequency and spectrum of MT-TT variants associated with Leber’s hereditary optic neuropathy in a Chinese cohort of subjects
por: Lyu, Yuanyuan, et al.
Publicado: (2019)

Increased nuclear DNA damage precedes mitochondrial dysfunction in peripheral blood mononuclear cells from Huntington’s disease patients
por: Askeland, Georgina, et al.
Publicado: (2018)

The road to the structure of the mitochondrial respiratory chain supercomplex
por: Caruana, Nikeisha J., et al.
Publicado: (2020)

Characterizing the supercomplex association of photosynthetic complexes in cyanobacteria
por: Zhang, Zimeng, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_kkp6dpq2cpqb1qhala8ovluket