How can mitochondrial DNA deletions act as a biomarker for the detection of endometriosis within the clinic?

[...]recently, the function of the mitochondrial genome was thought to be limited to its role in energy production, however continued research reveals that the complexity of this small DNA was vastly underestimated and roles in disease initiation, progression and intercellular communication are amon...

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Veröffentlicht in:Biomarkers in medicine 2020-01, Vol.14 (1), p.5-8
Hauptverfasser: Creed, Jennifer M, Maggrah, Andrea, Usher, Robert, Desa, Elise, Harbottle, Andrew
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container_title Biomarkers in medicine
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creator Creed, Jennifer M
Maggrah, Andrea
Usher, Robert
Desa, Elise
Harbottle, Andrew
description [...]recently, the function of the mitochondrial genome was thought to be limited to its role in energy production, however continued research reveals that the complexity of this small DNA was vastly underestimated and roles in disease initiation, progression and intercellular communication are among its critical functions (8). Typically, tens to hundreds of mtDNAs exist in each cell - in contrast to the one or two copies of the nuclear genome. [...]while the mass of DNA in a cell is >99.9% nuclear in origin, the difference in copy number is significant. [...]patients with a presumptive diagnosis of endometriosis who are considering laparoscopy for treatment purposes can benefit from a confirmatory biomarker test, wherein a diagnostic cut-off selected for high specificity and in turn low false-positive rate could aid in prevention of unnecessary surgery. [...]as severity of symptoms poorly parallels the severity of endometriosis, absence of return of symptoms may fail to alert patient and physician to progressing disease, a disconnect that can have a dire effect on pelvic health and fertility.
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subjects biomarker
Biomarkers
Biomarkers - analysis
Cell signaling
Copy number
Deoxyribonucleic acid
Disease
Disease Progression
DNA
DNA deletion
DNA, Mitochondrial - analysis
DNA, Mitochondrial - genetics
Endometriosis
Endometriosis - diagnosis
Endometriosis - genetics
Female
Genomes
Humans
Infertility
Laparoscopy
Life sciences
Menstruation
Mitochondrial DNA
molecular diagnostic
mtDNA
Mutation
Patients
Sequence Deletion
Surgery
title How can mitochondrial DNA deletions act as a biomarker for the detection of endometriosis within the clinic?
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