The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders

Autor: Nadia Turton, Neve Cufflin, Mollie Dewsbury, Olivia Fitzpatrick, Rahida Islam, Lowidka Linares Watler, Cara McPartland, Sophie Whitelaw, Caitlin Connor, Charlotte Morris, Jason Fang, Ollie Gartland, Liv Holt, Iain P. Hargreaves
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: International Journal of Molecular Sciences, Vol 23, Iss 13, p 7487 (2022)
Druh dokumentu: article
ISSN: 23137487
1422-0067
1661-6596
DOI: 10.3390/ijms23137487
Popis: 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.
Databáze: Directory of Open Access Journals
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