Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Harvard

APA

CBE

MLA

Vancouver

Author

Bibtex

@article{b0fe699c99ee4248970a1838b7b742dd,
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}",
note = "Copyright {\textcopyright} 2020 Elsevier B.V. and Mitochondria Research Society. All rights reserved.",
year = "2020",
month = jul,
doi = "10.1016/j.mito.2020.05.013",
language = "English",
volume = "53",
pages = "255--259",
journal = "Mitochondrion",
issn = "1567-7249",
publisher = "Elsevier BV",

}

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

N1 - Copyright © 2020 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

PY - 2020/7

Y1 - 2020/7

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

UR - http://www.scopus.com/inward/record.url?scp=85086646512&partnerID=8YFLogxK

U2 - 10.1016/j.mito.2020.05.013

DO - 10.1016/j.mito.2020.05.013

M3 - Letter

C2 - 32497723

VL - 53

SP - 255

EP - 259

JO - Mitochondrion

JF - Mitochondrion

SN - 1567-7249

ER -

ID: 61710666