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The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders

Turton, N, Cufflin, N, Dewsbury, M, Fitzpatrick, O, Islam, R, Linares Watler, L, McPartland, C, Whitelaw, S, Connor, C, Morris, C, Fang, J, Gartland, O, Holt, L and Hargreaves, IP (2022) The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders. International Journal of Molecular Sciences, 23 (13). ISSN 1661-6596

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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.

Item Type: Article
Uncontrolled Keywords: Chemical Physics; 0399 Other Chemical Sciences; 0604 Genetics; 0699 Other Biological Sciences
Subjects: Q Science > QD Chemistry
Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
R Medicine > RM Therapeutics. Pharmacology
Divisions: Pharmacy & Biomolecular Sciences
Publisher: MDPI
SWORD Depositor: A Symplectic
Date Deposited: 18 Jul 2022 09:23
Last Modified: 18 Jul 2022 09:30
DOI or ID number: 10.3390/ijms23137487
URI: https://researchonline.ljmu.ac.uk/id/eprint/17242
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