Results 1 to 10 of about 5,286 (150)

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset [PDF]

Cells, 2022
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathogenic ...
Sara Capiau, Joél Smet, Boel De Paepe, Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore, Hedwig Stepman, Sara Seneca, Arnaud Vanlander   +9 more
doaj   +8 more sources

Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast [PDF]

Disease Models & Mechanisms, 2023
ABSTRACT The list of mitochondrial DNA (mtDNA) variants detected in individuals with neurodegenerative diseases is constantly growing. Evaluating their functional consequences and pathogenicity is not easy, especially when they are found in only a limited number of patients together with wild-type mtDNA (heteroplasmy).
Emilia Baranowska, Katarzyna Niedzwiecka, Chiranjit Panja, Camille Charles, Alain Dautant, Jarosław Poznanski, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Roza Kucharczyk   +8 more
doaj   +4 more sources

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. Observations: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment,
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon   +5 more
doaj   +5 more sources

Evaluating the MT-CYB and MT-ATP6 variations in COVID-19 patients: A case-control study. [PDF]

PLoS ONE
The complications and lingering effects of COVID-19 have caused a global health crisis, prompting intense investigations into the mechanism by which SARS-CoV-2 causes the disease.
Gazi Nurun Nahar Sultana, Md Zahid Hasan, Arindita Das, Robin Sarker, Hossain Uddin Shekhar, Rokeya Begum   +5 more
doaj   +6 more sources

Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegeneration. [PDF]

Neurol Genet, 2020
Objective To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort.Methods We analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China.Results We identified 113 ...
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T, ATP6 Study Group.   +23 more
europepmc   +12 more sources

Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia. [PDF]

J Neurol, 2021
AbstractAdult-onset ataxias are a genetically and clinically heterogeneous group of movement disorders. In addition to nuclear gene mutations, sequence changes have also been described in the mitochondrial genome. Here, we present findings of mutation analysis of the mitochondrial gene MT-ATP6.
Nolte D, Kang JS, Hofmann A, Schwaab E, Krämer HH, Müller U.   +5 more
europepmc   +5 more sources

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening. [PDF]

Mol Genet Metab, 2021
Elevated citrulline and C5-OH levels are reported as part of the newborn screening of core and secondary disorders on the Recommended Uniform Screening Panel (RUSP). Additionally, some state laboratory newborn screening programs report low citrulline levels, which may be observed in proximal urea cycle disorders.
Peretz RH, Ah Mew N, Vernon HJ, Ganetzky RD.   +3 more
europepmc   +3 more sources

The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations? [PDF]

Diseases, 2020
Pathogenic variants in the MT-ATP6 are a well-known cause for maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes.
Diana Lehmann Urban, Leila Motlagh Scholle, Matias Wagner, Albert C. Ludolph, Angela Rosenbohm   +4 more
doaj   +2 more sources

Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutations. [PDF]

Neurol Genet, 2020
To describe the clinical and functional consequences of 1 novel and 1 previously reported truncating MT-ATP6 mutation.Three unrelated probands with mitochondrial encephalomyopathy harboring truncating MT-ATP6 mutations are reported. Transmitochondrial cybrid cell studies were used to confirm pathogenicity of 1 novel variant, and the effects of all 3 ...
Bugiardini E, Bottani E, Marchet S, Poole OV, Beninca C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG, Pitceathly RDS.   +19 more
europepmc   +7 more sources

Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review [PDF]

中国当代儿科杂志
This report describes the potential diagnostic value of decreased plasma citrulline (pCit) levels for the early recognition of MT-ATP6-related mitochondrial disease. Two cases were reported, and relevant literature was reviewed. Case 1: Onset occurred at
YAN Hui-Ming, QUAN Ying, ZHOU Ying, JIANG Luo, ZHANG Liang-Yu, WAN Zheng-Qing, XI Hui   +6 more
doaj   +2 more sources