The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders

Abstract

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.

Research Progress on the Pathogenesis of Premature Ovarian Failure: A Review

“…Mitochondria are a source of biopower, and the energy released by mitochondria from the breakdown of organic matter, including sugars, lipids, and amino acids, through the process of oxidative phosphorylation drives the synthesis of ATP [30]. In eukaryotic cells, the systems involved in oxidative phosphorylation are distributed across the inner mitochondrial membrane in the form of five complexes that constitute the respiratory chain (RC), also known as the electron transport chain (ETC) [31]. Mitochondria provide energy to support transcription and translation during oocyte maturation, fertilization, and early embryo development in oocytes and during reproduction; thus, the quality of mitochondria in the oocyte determines the quality of the oocyte and the developing embryo.…”