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The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders
Mitochondrial respiratory chain (MRC) disorders are a complex group of diseases whose diagnosis requires a multidisciplinary approach in which the biochemical investigations play an important role. Initial investigations include metabolite analysis in both blood and urine and the measurement of lact...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267223/ https://www.ncbi.nlm.nih.gov/pubmed/35806492 http://dx.doi.org/10.3390/ijms23137487 |
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author | Turton, Nadia Cufflin, Neve Dewsbury, Mollie Fitzpatrick, Olivia Islam, Rahida Watler, Lowidka Linares McPartland, Cara Whitelaw, Sophie Connor, Caitlin Morris, Charlotte Fang, Jason Gartland, Ollie Holt, Liv Hargreaves, Iain P. |
author_facet | Turton, Nadia Cufflin, Neve Dewsbury, Mollie Fitzpatrick, Olivia Islam, Rahida Watler, Lowidka Linares McPartland, Cara Whitelaw, Sophie Connor, Caitlin Morris, Charlotte Fang, Jason Gartland, Ollie Holt, Liv Hargreaves, Iain P. |
author_sort | Turton, Nadia |
collection | PubMed |
description | Mitochondrial respiratory chain (MRC) disorders are a complex group of diseases whose diagnosis requires a multidisciplinary approach in which the biochemical investigations play an important role. Initial investigations include metabolite analysis in both blood and urine and the measurement of lactate, pyruvate and amino acid levels, as well as urine organic acids. Recently, hormone-like cytokines, such as fibroblast growth factor-21 (FGF-21), have also been used as a means of assessing evidence of MRC dysfunction, although work is still required to confirm their diagnostic utility and reliability. The assessment of evidence of oxidative stress may also be an important parameter to consider in the diagnosis of MRC function in view of its association with mitochondrial dysfunction. At present, due to the lack of reliable biomarkers available for assessing evidence of MRC dysfunction, the spectrophotometric determination of MRC enzyme activities in skeletal muscle or tissue from the disease-presenting organ is considered the ‘Gold Standard’ biochemical method to provide evidence of MRC dysfunction. The purpose of this review is to outline a number of biochemical methods that may provide diagnostic evidence of MRC dysfunction in patients. |
format | Online Article Text |
id | pubmed-9267223 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-92672232022-07-09 The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders Turton, Nadia Cufflin, Neve Dewsbury, Mollie Fitzpatrick, Olivia Islam, Rahida Watler, Lowidka Linares McPartland, Cara Whitelaw, Sophie Connor, Caitlin Morris, Charlotte Fang, Jason Gartland, Ollie Holt, Liv Hargreaves, Iain P. Int J Mol Sci Review Mitochondrial respiratory chain (MRC) disorders are a complex group of diseases whose diagnosis requires a multidisciplinary approach in which the biochemical investigations play an important role. Initial investigations include metabolite analysis in both blood and urine and the measurement of lactate, pyruvate and amino acid levels, as well as urine organic acids. Recently, hormone-like cytokines, such as fibroblast growth factor-21 (FGF-21), have also been used as a means of assessing evidence of MRC dysfunction, although work is still required to confirm their diagnostic utility and reliability. The assessment of evidence of oxidative stress may also be an important parameter to consider in the diagnosis of MRC function in view of its association with mitochondrial dysfunction. At present, due to the lack of reliable biomarkers available for assessing evidence of MRC dysfunction, the spectrophotometric determination of MRC enzyme activities in skeletal muscle or tissue from the disease-presenting organ is considered the ‘Gold Standard’ biochemical method to provide evidence of MRC dysfunction. The purpose of this review is to outline a number of biochemical methods that may provide diagnostic evidence of MRC dysfunction in patients. MDPI 2022-07-05 /pmc/articles/PMC9267223/ /pubmed/35806492 http://dx.doi.org/10.3390/ijms23137487 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Turton, Nadia Cufflin, Neve Dewsbury, Mollie Fitzpatrick, Olivia Islam, Rahida Watler, Lowidka Linares McPartland, Cara Whitelaw, Sophie Connor, Caitlin Morris, Charlotte Fang, Jason Gartland, Ollie Holt, Liv Hargreaves, Iain P. The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders |
title | The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders |
title_full | The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders |
title_fullStr | The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders |
title_full_unstemmed | The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders |
title_short | The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders |
title_sort | biochemical assessment of mitochondrial respiratory chain disorders |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267223/ https://www.ncbi.nlm.nih.gov/pubmed/35806492 http://dx.doi.org/10.3390/ijms23137487 |
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