Inherited Metabolic Disorders
Mitochondria are cell organelles that play the role of a predominant energy producer at the molecular level.
To study mitochondria, we use both animal models and cells derived from patients suffering from various inherited mitochondrial disorders. Mitochondrial disorders manifest themselves as energy deprivation, especially in heart, muscle or brain that are all tissues with high energy demands. Therefore, many mitochondrial disorders are diagnosed as cardiomyopathies or encephalopathies.
We develop procedures for the diagnostics of mitochondrial disorders for clinical practice. From the patient point of view, our greatest improvement lies in the use of blood samples. Taking a blood sample is significantly less painful in comparison to a muscle or skin biopsy that has been used for the diagnostics so far.
Isolation of lymphocytes starts with layering of patient blood above the density medium Ficoll. During centrifugation, individual blood cell types sediment according to their size – erythrocytes are at the bottom, then there is the Ficoll layer and leukocytes above it (they are too large to go through Ficoll to the tube bottom). Above leukocytes (the majority of them are lymphocytes), there is blood plasma.