Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics. / du Mee, Dorine Jeanne Mariëtte; Bak, Mads; Østergaard, Elsebet; Rasmussen, Lene Juel.

In: Mitochondrion, Vol. 53, 2020, p. 255-259.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

du Mee, DJM, Bak, M, Østergaard, E & Rasmussen, LJ 2020, 'Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics', Mitochondrion, vol. 53, pp. 255-259. https://doi.org/10.1016/j.mito.2020.05.013

APA

du Mee, D. J. M., Bak, M., Østergaard, E., & Rasmussen, L. J. (2020). Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics. Mitochondrion, 53, 255-259. https://doi.org/10.1016/j.mito.2020.05.013

Vancouver

du Mee DJM, Bak M, Østergaard E, Rasmussen LJ. Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics. Mitochondrion. 2020;53:255-259. https://doi.org/10.1016/j.mito.2020.05.013

Author

du Mee, Dorine Jeanne Mariëtte ; Bak, Mads ; Østergaard, Elsebet ; Rasmussen, Lene Juel. / Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics. In: Mitochondrion. 2020 ; Vol. 53. pp. 255-259.

Bibtex

@article{6fdd1dfb766e49048c97c1bb31926f96,
title = "Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics",
abstract = "Mitochondrial disorders are one of the most common inherited metabolic disorders and are caused by variants in nuclear genes or the mitochondrial genome. Additionally, there is a large group of patients displaying clinical symptoms, where the genetic background is unknown. Mitochondrial disorders have a huge variety in their clinical presentation, making diagnostics challenging. Genomes of higher organisms contain around 95% non-protein-coding DNA. Recently, non-protein-coding sequences have been shown to affect gene expression in many cellular processes, including mitochondrial functioning. As these insights are not frequently incorporated in diagnostics we propose a workflow utilizing this knowledge for faster diagnostics of patients lacking a molecular diagnosis.",
keywords = "Diagnostics, Mitochondrial disorders, Non-protein-coding DNA, Pathogenic non-coding variants",
author = "{du Mee}, {Dorine Jeanne Mari{\"e}tte} and Mads Bak and Elsebet {\O}stergaard and Rasmussen, {Lene Juel}",
year = "2020",
doi = "10.1016/j.mito.2020.05.013",
language = "English",
volume = "53",
pages = "255--259",
journal = "Mitochondrion",
issn = "1567-7249",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics

AU - du Mee, Dorine Jeanne Mariëtte

AU - Bak, Mads

AU - Østergaard, Elsebet

AU - Rasmussen, Lene Juel

PY - 2020

Y1 - 2020

N2 - Mitochondrial disorders are one of the most common inherited metabolic disorders and are caused by variants in nuclear genes or the mitochondrial genome. Additionally, there is a large group of patients displaying clinical symptoms, where the genetic background is unknown. Mitochondrial disorders have a huge variety in their clinical presentation, making diagnostics challenging. Genomes of higher organisms contain around 95% non-protein-coding DNA. Recently, non-protein-coding sequences have been shown to affect gene expression in many cellular processes, including mitochondrial functioning. As these insights are not frequently incorporated in diagnostics we propose a workflow utilizing this knowledge for faster diagnostics of patients lacking a molecular diagnosis.

AB - Mitochondrial disorders are one of the most common inherited metabolic disorders and are caused by variants in nuclear genes or the mitochondrial genome. Additionally, there is a large group of patients displaying clinical symptoms, where the genetic background is unknown. Mitochondrial disorders have a huge variety in their clinical presentation, making diagnostics challenging. Genomes of higher organisms contain around 95% non-protein-coding DNA. Recently, non-protein-coding sequences have been shown to affect gene expression in many cellular processes, including mitochondrial functioning. As these insights are not frequently incorporated in diagnostics we propose a workflow utilizing this knowledge for faster diagnostics of patients lacking a molecular diagnosis.

KW - Diagnostics

KW - Mitochondrial disorders

KW - Non-protein-coding DNA

KW - Pathogenic non-coding variants

U2 - 10.1016/j.mito.2020.05.013

DO - 10.1016/j.mito.2020.05.013

M3 - Journal article

C2 - 32497723

AN - SCOPUS:85086646512

VL - 53

SP - 255

EP - 259

JO - Mitochondrion

JF - Mitochondrion

SN - 1567-7249

ER -

ID: 244611966