Detection of the 4977 Base Pair Mitochondrial DNA Deletion in Paraffin-Embedded Heart Tissue Using the Polymerase Chain Reaction—A New Method to Probe Sudden Cardiac Death Molecular Mechanisms?

1994 ◽  
Vol 39 (3) ◽  
pp. 13647J ◽  
Author(s):  
Pierre J. Fouret ◽  
Guy Nicolas ◽  
Dominique Lecomte
Keyword(s):  
Polymerase Chain Reaction ◽  
Mitochondrial Dna ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Molecular Mechanisms ◽  
Heart Tissue ◽  
Chain Reaction ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion ◽  
Polymerase Chain

scholarly journals Ligation-Mediated Polymerase Chain Reaction Detection of 8-Oxo-7,8-Dihydro-2′-Deoxyguanosine and 5-Hydroxycytosine at the Codon 176 of the p53 Gene of Hepatitis C-Associated Hepatocellular Carcinoma Patients

2020 ◽  
Vol 21 (18) ◽  
pp. 6753
Author(s):  
Andrea Galli ◽  
Armelle Munnia ◽  
Filippo Cellai ◽  
Mirko Tarocchi ◽  
Elisabetta Ceni ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Polymerase Chain Reaction ◽  
Hepatitis C ◽  
Molecular Mechanisms ◽  
Active Oxygen Species ◽  
Dietary Exposure ◽  
P53 Gene ◽  
Chain Reaction ◽  
Specific Sequence ◽  
Polymerase Chain

Molecular mechanisms underlying Hepatitis C virus (HCV)-associated hepatocellular carcinoma (HCC) pathogenesis are still unclear. Therefore, we analyzed the levels of 8-oxo-7,8-dihydro-2′-deoxyguanosine (8-oxodG) and other oxidative lesions at codon 176 of the p53 gene, as well as the generation of 3-(2-deoxy-β-d-erythro-pentafuranosyl)pyrimido[1,2-α]purin-10(3H)-one deoxyguanosine (M1dG), in a cohort of HCV-related HCC patients from Italy. Detection of 8-oxodG and 5-hydroxycytosine (5-OHC) was performed by ligation mediated-polymerase chain reaction assay, whereas the levels of M1dG were measured by chromatography and mass-spectrometry. Results indicated a significant 130% excess of 8-oxodG at –TGC– position of p53 codon 176 in HCV-HCC cases as compared to controls, after correction for age and gender, whereas a not significant increment of 5-OHC at –TGC– position was found. Then, regression models showed an 87% significant excess of M1dG in HCV-HCC cases relative to controls. Our study provides evidence that increased adduct binding does not occur randomly on the sequence of the p53 gene but at specific sequence context in HCV-HCC patients. By-products of lipid peroxidation could also yield a role in HCV-HCC development. Results emphasize the importance of active oxygen species in inducing nucleotide lesions at a p53 mutational hotspot in HCV-HCC patients living in geographical areas without dietary exposure to aflatoxin B1.

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.

scholarly journals Mitochondrial DNA Mutations Associated with Neuromuscular Diseases: Analysis and Diagnosis Using the Polymerase Chain Reaction

1990 ◽  
Vol 28 (5) ◽  
pp. 525-528 ◽  
Author(s):  
Douglas C Wallace ◽  
Marie T Lott ◽  
Angela M S Lezza ◽  
Peter Seibel ◽  
Alexander S Voljavec ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Mitochondrial Dna ◽  
Neuromuscular Diseases ◽  
Chain Reaction ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Polymerase Chain
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