Project Title: Functional model for the mitochondrial disease evaluation and biomarker development
Department of Human and Medical Genetics Faculty of Medicine Vilnius University
Department of Neurology, Chang-Gung University and Kaohsiung Chang-Gung Memorial Hospital
Principle Investigator BMC: Dr. med. Baiba Lāce, Dr. biol. Inna Iņaškina
The proposed project will include construct of a cybrid model, which should help predict the effects of mutations in mtDNA. The functional model will allow conclusions to be drawn about the effects of certain mutations in the cell, as well as about the effects of combinations of different mtDNA mutations. Information will be gathered about cellular processes in aging populations and in patients with mitochondrial diseases. Project outcome will be new information about the different mechanisms of mitochondrial dysfunction, the consequences of damaged genes and their combinations in the processes of oxidative phosphorylation, and experimental results. Immediate practical applications will include new diagnostic tests and mitochondrial metabolic network construction. However project should not have an immediate commercial endpoint, but the results of the research should be transferable to industry. Collaboration of the research centres in the proposed project will lead to efficient combination of key facilities.
Consortium was created from the specialists, who have experience with mitochondrial research or have unique expertise in the areas required for the successful implementation of the project. The results of the project will attract the interest of molecular biologists, laboratory specialists and physicians nationally and internationally. This will promote student education, research transfer and public awareness of mitochondrial diseases.