Study of the mitochondrial bioenergetics

Our primary research involves diagnostic studies of primary mitochondrial disorders. Mitochondrial disorders are oxidative phosphorylation disorders that affect the function of the respiratory chain and the main substrates through the Krebs cycle. Patients with clinical similarities to mitochondrial diseases or of disorders with known, presumed or potential secondary mitochondrial dysfunction are also commonly studied.

This study includes several essays:

• Study of the activity of the complexes of the Mitochondrial Respiratory Chain
  The assessment of mitochondrial respiratory chain enzymatic activity is essential for investigating mitochondrial function in several situations, including mitochondrial disorders, It is a first-line technique both for research studies and for diagnostics.
• Study of the activity of the enzymes of the Krebs cycle
  Investigation of the dysfunction of Krebs cycle-related enzymes as a possible cause of human diseases, such as neurometabolic disorders and tumors, arising in the context of both mitochondrial and cytoplasmic enzymes.
• Assessment of oxygen consumption and medium acidification rates by real-time extracellular flow analysis;
  Oxygen consumption rate (OCR) and extracellular acidification rate (ECAR) will be measured using the Extracellular Flux Analyzer, allowing a characterization in sorts of oxidative phosphorylation (OXPHOS) vs. glycolysis rates.
• Assay of the ATP levels in plasma
  A disturbance of cellular energy homeostasis may be reflected in plasma ATP levels of the patients in study. ATP circulating extracellular levels reduction suggests energy impairment.
• Study of Coenzyme Q10
  Coenzyme Q10 deficiencies are clinically and genetically heterogeneous diseases that can occur due to defects of ubiquinone biosynthesis (primary deficiencies) or other causes (secondary deficiencies).
• Cell culture
  Essential activity for several cellular biology studies, for purposes of diagnosis or research, including functional studies of bioenergetics and/or biomolecular and structural. Primary cell culture, namely patient-derived skin fibroblasts (minimally invasive tissue).
• Isolation of lymphocytes from peripheral blood
  Blood cells are commonly the first tissue to be analyzed, despite that a muscle biopsy is still regarded as the cornerstone of the diagnostic examination of patients with a suspected mitochondrial disease.