Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion

2013 ◽  
Vol 115 (8) ◽  
pp. 1490-1492 ◽  
Author(s):  
Danhua Zhao ◽  
Zhaoxia Wang ◽  
Daojun Hong ◽  
Wei Zhang ◽  
Yun Yuan
Keyword(s):  
Mitochondrial Dna ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Large Scale ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings

2017 ◽  
Vol 264 (3) ◽  
pp. 597-599 ◽  
Author(s):  
Lucia Ruggiero ◽  
Chiara Fiorillo ◽  
Claudia Nesti ◽  
Fiore Manganelli ◽  
Rosa Iodice ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion

Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion

2016 ◽  
Vol 263 (7) ◽  
pp. 1449-1451 ◽  
Author(s):  
Lorenzo Gaetani ◽  
Andrea Mignarri ◽  
Maria Di Gregorio ◽  
Paola Sarchielli ◽  
Alessandro Malandrini ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Mitochondrial Dna ◽  
Large Scale ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Single Deletion

scholarly journals Mechanisms of replication and repair in mitochondrial DNA deletion formation

2020 ◽  
Vol 48 (20) ◽  
pp. 11244-11258
Author(s):  
Gabriele A Fontana ◽  
Hailey L Gahlon
Keyword(s):  
Dna Damage ◽  
Mitochondrial Dna ◽  
Large Scale ◽  
Molecular Mechanisms ◽  
Mitochondrial Dna Deletion ◽  
Deletion Formation ◽  
Dna Deletion ◽  
Mtdna Deletions ◽  
Mtdna Deletion

Abstract Deletions in mitochondrial DNA (mtDNA) are associated with diverse human pathologies including cancer, aging and mitochondrial disorders. Large-scale deletions span kilobases in length and the loss of these associated genes contributes to crippled oxidative phosphorylation and overall decline in mitochondrial fitness. There is not a united view for how mtDNA deletions are generated and the molecular mechanisms underlying this process are poorly understood. This review discusses the role of replication and repair in mtDNA deletion formation as well as nucleic acid motifs such as repeats, secondary structures, and DNA damage associated with deletion formation in the mitochondrial genome. We propose that while erroneous replication and repair can separately contribute to deletion formation, crosstalk between these pathways is also involved in generating deletions.

Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction

2000 ◽  
Vol 10 (1) ◽  
pp. 56-58 ◽  
Author(s):  
Yolanda Campos ◽  
Miguel A Martı́n ◽  
Cristina Caballero ◽  
Juan C Rubio ◽  
Francisco de la Cruz ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Large Scale ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion ◽  
Intestinal Pseudo Obstruction

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders

2018 ◽  
Vol 481 ◽  
pp. 156-160 ◽  
Author(s):  
Michela Semeraro ◽  
Sara Boenzi ◽  
Rosalba Carrozzo ◽  
Daria Diodato ◽  
Diego Martinelli ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Organic Acids ◽  
Large Scale ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion ◽  
Urinary Organic Acids
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