Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

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Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues. / Jeppesen, Tina D.; Duno, Morten; Vissing, John.

I: Frontiers in Genetics, Bind 11, 547638, 2020.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Jeppesen, TD, Duno, M & Vissing, J 2020, 'Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues', Frontiers in Genetics, bind 11, 547638. https://doi.org/10.3389/fgene.2020.547638

APA

Jeppesen, T. D., Duno, M., & Vissing, J. (2020). Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues. Frontiers in Genetics, 11, [547638]. https://doi.org/10.3389/fgene.2020.547638

Vancouver

Jeppesen TD, Duno M, Vissing J. Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues. Frontiers in Genetics. 2020;11. 547638. https://doi.org/10.3389/fgene.2020.547638

Author

Jeppesen, Tina D. ; Duno, Morten ; Vissing, John. / Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues. I: Frontiers in Genetics. 2020 ; Bind 11.

Bibtex

@article{76a5fba7b1b84574866b2759de1f2586,
title = "Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues",
abstract = "It is generally accepted that patients with chronic progressive ophthalmoplegia caused by single large-scale deletion (SLD) of mitochondrial DNA (mtDNA) only harbor mutation in skeletal and eye muscles. The aim of this study was to investigate the presence and the level of heteroplasmy of mtDNA deletions in mitotic tissues of patients displaying mtDNA deletion of mitotic tissues in patients with SLDs and pure muscle phenotype. MtDNA mutation load was studied in three mitotic (urine epithelial cells, buccal mucosa, and blood) and one postmitotic (skeletal muscle) tissues in 17 patients with SLDs of mtDNA and pure muscle involvement. All patients had mtDNA deletion in skeletal muscle, and 78% of the patients also displayed the mtDNA deletion in mitotic tissues. The mtDNA mutation load was higher in skeletal muscle versus mitotic tissues. The mtDNA mutation load did not correlate with age of sampling of tissues, but there was a correlation between the mtDNA mutations load in skeletal muscle and (1) the site of 5′ end breaking point of the SLD, (2) the size of SLD, (3) the number of affected tRNAs, and (4) age at onset (r > 0.58, P < 0.05). The findings indicate that mtDNA mutation in mitotic tissue is common in patients with SLDs of mtDNA. The lack of correlation between age of tissue sampling, age at onset, and mtDNA mutation load in mitotic tissues indicates that there is no extensive post-natal modification of mtDNA mutation load in mitotic tissues of patients with pure muscle phenotype.",
keywords = "chronic progressive external ophthalmoplegia, CPEO, mitochondrial myopathy, mtDNA deletion, mtDNA mutation, phenotype–genotype",
author = "Jeppesen, {Tina D.} and Morten Duno and John Vissing",
year = "2020",
doi = "10.3389/fgene.2020.547638",
language = "English",
volume = "11",
journal = "Frontiers in Genetics",
issn = "1664-8021",
publisher = "Frontiers Media S.A.",

}

RIS

TY - JOUR

T1 - Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

AU - Jeppesen, Tina D.

AU - Duno, Morten

AU - Vissing, John

PY - 2020

Y1 - 2020

N2 - It is generally accepted that patients with chronic progressive ophthalmoplegia caused by single large-scale deletion (SLD) of mitochondrial DNA (mtDNA) only harbor mutation in skeletal and eye muscles. The aim of this study was to investigate the presence and the level of heteroplasmy of mtDNA deletions in mitotic tissues of patients displaying mtDNA deletion of mitotic tissues in patients with SLDs and pure muscle phenotype. MtDNA mutation load was studied in three mitotic (urine epithelial cells, buccal mucosa, and blood) and one postmitotic (skeletal muscle) tissues in 17 patients with SLDs of mtDNA and pure muscle involvement. All patients had mtDNA deletion in skeletal muscle, and 78% of the patients also displayed the mtDNA deletion in mitotic tissues. The mtDNA mutation load was higher in skeletal muscle versus mitotic tissues. The mtDNA mutation load did not correlate with age of sampling of tissues, but there was a correlation between the mtDNA mutations load in skeletal muscle and (1) the site of 5′ end breaking point of the SLD, (2) the size of SLD, (3) the number of affected tRNAs, and (4) age at onset (r > 0.58, P < 0.05). The findings indicate that mtDNA mutation in mitotic tissue is common in patients with SLDs of mtDNA. The lack of correlation between age of tissue sampling, age at onset, and mtDNA mutation load in mitotic tissues indicates that there is no extensive post-natal modification of mtDNA mutation load in mitotic tissues of patients with pure muscle phenotype.

AB - It is generally accepted that patients with chronic progressive ophthalmoplegia caused by single large-scale deletion (SLD) of mitochondrial DNA (mtDNA) only harbor mutation in skeletal and eye muscles. The aim of this study was to investigate the presence and the level of heteroplasmy of mtDNA deletions in mitotic tissues of patients displaying mtDNA deletion of mitotic tissues in patients with SLDs and pure muscle phenotype. MtDNA mutation load was studied in three mitotic (urine epithelial cells, buccal mucosa, and blood) and one postmitotic (skeletal muscle) tissues in 17 patients with SLDs of mtDNA and pure muscle involvement. All patients had mtDNA deletion in skeletal muscle, and 78% of the patients also displayed the mtDNA deletion in mitotic tissues. The mtDNA mutation load was higher in skeletal muscle versus mitotic tissues. The mtDNA mutation load did not correlate with age of sampling of tissues, but there was a correlation between the mtDNA mutations load in skeletal muscle and (1) the site of 5′ end breaking point of the SLD, (2) the size of SLD, (3) the number of affected tRNAs, and (4) age at onset (r > 0.58, P < 0.05). The findings indicate that mtDNA mutation in mitotic tissue is common in patients with SLDs of mtDNA. The lack of correlation between age of tissue sampling, age at onset, and mtDNA mutation load in mitotic tissues indicates that there is no extensive post-natal modification of mtDNA mutation load in mitotic tissues of patients with pure muscle phenotype.

KW - chronic progressive external ophthalmoplegia

KW - CPEO

KW - mitochondrial myopathy

KW - mtDNA deletion

KW - mtDNA mutation

KW - phenotype–genotype

U2 - 10.3389/fgene.2020.547638

DO - 10.3389/fgene.2020.547638

M3 - Journal article

C2 - 33133144

AN - SCOPUS:85092937755

VL - 11

JO - Frontiers in Genetics

JF - Frontiers in Genetics

SN - 1664-8021

M1 - 547638

ER -

ID: 256165465