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Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants in MT-CYB, MT-ND4 Genes and Haplogroups

Autor: Valeria Lo Faro, Ilja M. Nolte, Jacoline B. Ten Brink, Harold Snieder, Nomdo M. Jansonius, Arthur A. Bergen, Lifelines Cohort Study

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

Background and purpose: Primary open-angle glaucoma (POAG) is an optic neuropathy characterized by death of retinal ganglion cells and atrophy of the optic nerve head. The susceptibility of the optic nerve to damage has been shown to be mediated by m

Externí odkaz: https://doaj.org/article/a2d49cc5d6ec4e3e9fa4524d5b2c9765

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Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation

Funder: GenSight Biologics
Funder: patients’ organizations MITOCON and IFOND, and patients’ donations
Funder: Fight for Sight UK; doi: http://dx.doi.org/10.13039/501100000615
Funder: Isaac Newton Trust; doi: http://dx.doi.org/10.13

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a24ae51558b5bef5a137f78c2fbcc7fb

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Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation

Publikováno v: OPHTHALMOLOGY AND THERAPY

Introduction: Lenadogene nolparvovec is a promising novel gene therapy for patients with Leber hereditary optic neuropathy (LHON) carrying the m.11778G>A ND4 mutation (MT-ND4). A previous pooled analysis of phase3 studies showed an improvement in vis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::407bd2d9bd89577f5a2dd1378b74c5d2
https://hdl.handle.net/11585/916797

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Akademický článek

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P–542 Relationship between the single nucleotides polymorphisms in Mitochondrial Nicotinamide Adenine Dinucleotide Hydride dehydrogenase (NADH) Subunit 4 gene (MT-ND4) and male infertility

Autor: Houda Amor, M. Sali. A Zoubi, F W Dahadhah, M. Sale Jaweesh, M Ei. Hammadeh, M Issa. Ab. Alarjah

Publikováno v: Human Reproduction. 36

Study question Is there any association between male infertility and the polymorphic variants of Mitochondrial Nicotinamide Adenine Dinucleotide Hydride dehydrogenase (NADH) Subunit 4 (MT-ND4)? Summary answer Our findings suggested that male infertil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::222c30864760627086e50899e5d88ea3
https://doi.org/10.1093/humrep/deab130.541

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Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation

Autor: Olfa Alila-Fersi, Lamia Sfaihi, Mongia Hachicha, Faiza Fakhfakh, Marwa Ammar, Rahma Felhi, Marwa Maalej, Emna Mkaouar-Rebai

Publikováno v: Molecular Biology Reports.

Mitochondrial diseases include a wide group of clinically heterogeneous disorders caused by a dysfunction of the mitochondrial respiratory chain and can be related to mutations in nuclear or mitochondrial DNA genes. In the present report, we performe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf6bea0f81de38279196c22c17a5803c
https://doi.org/10.1007/s11033-021-06452-4

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Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6

Autor: Wendy Vargas, Andres Berardo, Valentina Emmanuele, Michio Hirano, Ali Naini, Kurenai Tanji

Publikováno v: J Neurol

Leber hereditary optic neuropathy (LHON) typically presents as painless central or centrocecal scotoma and is due to maternally inherited mitochondrial DNA (mtDNA) mutations. Over 95% of LHON cases are caused by one of three mtDNA “common” point

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f6c19e34f91a79fa7311be1a88a0683
https://doi.org/10.1007/s00415-019-09619-z

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A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy Due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review

Autor: Lina Alūzaitė-Baranauskienė, Lina Kuliaviene, Rasa Liutkeviciene, Brigita Glebauskiene, Reda Zemaitiene, Agne Sidaraite, Arvydas Gelzinis, Neringa Jurkute

Publikováno v: Medicina, Vol 57, Iss 202, p 202 (2021)
Medicina

Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a5471a40d17d5a9911023fc0ccf654
https://doi.org/10.3390/medicina57030202

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