Results 11 to 20 of about 5,286 (150)

Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation

Journal of the Formosan Medical Association, 2022
Episodic weakness is typically associated with a group of disorders so called periodic paralyses. Their major causes are mutation of ion channels, and have rarely been linked to mitochondrial disorders.
Tzu-Hsuan Su, Ni-Chung Lee, Chao-Szu Wu, Steven Shinn-Forng Peng, Pi-Chuan Fan   +4 more
doaj   +3 more sources

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy [PDF]

Annals of Clinical and Translational Neurology, 2021
The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical features with ...
Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, Daniela Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valerio Carelli   +15 more
doaj   +2 more sources

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs [PDF]

Molecular Genetics and Metabolism Reports, 2019
Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), MT-ATP6 partly overlaps with MT-ATP8 making double mutations possible, yet extremely ...
Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger   +7 more
doaj   +2 more sources

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies [PDF]

Orphanet Journal of Rare Diseases
Background MT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl complex V, which is involved in the last step of oxidative phosphorylation to produce cellular ATP through ...
Daniele Sala, Silvia Marchet, Lorenzo Nanetti, Andrea Legati, Caterina Mariotti, Eleonora Lamantea, Daniele Ghezzi, Alessia Catania, Costanza Lamperti   +8 more
doaj   +2 more sources

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism. [PDF]

Hum Mol Genet, 2022
Abstract Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent causes of neurological mitochondrial diseases with a range of phenotypes from Leigh syndrome and NARP to ataxias and neuropathies. Here we investigated the functional consequences of an unusual heteroplasmic truncating mutation m.9154C>T
Kenvin S, Torregrosa-Muñumer R, Reidelbach M, Pennonen J, Turkia JJ, Rannila E, Kvist J, Sainio MT, Huber N, Herukka SK, Haapasalo A, Auranen M, Trokovic R, Sharma V, Ylikallio E, Tyynismaa H.   +15 more
europepmc   +5 more sources

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. [PDF]

Ann Neurol, 2019
Distinct clinical syndromes have been associated with pathogenic MT‐ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa.
Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.   +27 more
europepmc   +7 more sources

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. [PDF]

Mitochondrion, 2019
Elevations of specific acylcarnitines in blood reflect carboxylase deficiencies, and have utility in newborn screening for life-threatening organic acidemias and other inherited metabolic diseases. In this report, we describe a newly-identified association of biochemical features of multiple carboxylase deficiency in individuals harboring mitochondrial
Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD.   +17 more
europepmc   +3 more sources

DNA polymorphisms detected in MT-ATP6 and MT-ATP8 genes in the residents of Sarajevo Canton

Genetics & Applications
Human mitochondrial genes MT-ATP6 and MT-ATP8 encode the subunits 6 and 8, respectively, of ATP synthase, a vital protein Complex V intricately involved in oxidative phosphorylation and ATP metabolism.
Nejira Handžić, Dino Pećar, Selma Durgut, Naida Mulahuseinović, Ivana Čeko, Mirza Izmirlija, Adna Ašić, Lana Salihefendić, Rijad Konjhodžić   +8 more
doaj   +2 more sources

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy. [PDF]

J Neuromuscul Dis, 2019
Bardakjian T, Scherer SS.
europepmc   +4 more sources

Transcription of the Extensively Fragmented Mitochondrial Genomes of Human Lice [PDF]

Biology
The mitochondrial (mt) genomes of animals, including humans, are typically a single circular chromosome containing all mt genes. In several animal lineages, however, mt genomes have become fragmented, with genes distributed on multiple minichromosomes ...
Emily Dunn, Renfu Shao
doaj   +2 more sources