Itkis 2010 Abstract IOC60

Itkis YS (2010) Respirometry application in Leigh disease diagnostic and treatment. MiPNet15.10.

Link: IOC60

Itkis YS (2010)

Event: IOC60

Leigh syndrome is a case of mitochondrial disease frequently ascribed to mitochondrial respiratory deficiency in muscles and in a wide variety of tissues. The clinical manifestation of this disease is extremely heterogeneous. It depends on a severity of oxidative phosphorylation (OXPHOS) damage and on need of different organs and tissues in ATP. Very often in such cases it is difficult to predict a causative mutation.

In our laboratory we perform mitochondrial genes sequence analysis (in nuclear and mitochondrial DNA) of patients with Leigh and Leigh-like disease to determine a mutation. But mostly these patients are classified to a group with mitochondrial disorders just by phenotype features, not correctly sometimes. Thus, it would be highly important for us to apply a high-resolution respirometry (HRR) measurement on muscle biopsy to prove a mitochondrial dysfunction as a cause of the disease. Also this approach can help to avoid a needless analysis on patients with intact mitochondria.

Another potential application of HRR in our research is measurement of respiration in fibroblast cell cultures of patients with defined rare mutation. As nowadays there is not a unique drug for such patients, they are usually subjected to a symptomatic treatment of various substances. We plan to treat fibroblast with different agents (e.g. antioxidants) to find the most effective one for every mutation individually.

Therefore the HRR approach will improve the quality of our investigation.

• Keywords: Leigh syndrome

Labels:

Stress:Genetic Defect; Knockdown; Overexpression"Genetic Defect; Knockdown; Overexpression" is not in the list (Cell death, Cryopreservation, Ischemia-reperfusion, Permeability transition, Oxidative stress;RONS, Temperature, Hypoxia, Mitochondrial disease) of allowed values for the "Stress" property.  Organism: Human  Tissue;cell: Fibroblast  Preparation: Intact Cell; Cultured; Primary"Intact Cell; Cultured; Primary" is not in the list (Intact organism, Intact organ, Permeabilized cells, Permeabilized tissue, Homogenate, Isolated mitochondria, SMP, Chloroplasts, Enzyme, Oxidase;biochemical oxidation, ...) of allowed values for the "Preparation" property. 

Coupling state: OXPHOS 

HRR: Oxygraph-2k  Event: IOC60"IOC60" is not in the list (A1, A2, A3, A4, B1, B2, B3, B4, C1, C2, ...) of allowed values for the "Event" property.