Functional model for the mitochondrial disease evaluation and biomarker development
Project title: "Functional model for the mitochondrial disease evaluation and biomarker development"
Funding: Taiwan-Latvian-Lithuanian collaboration project
Project partners: TW- Chang-Gung Memorial Hospital and Chang-Gung University, Kaohsiung, Taiwan, LV- Biomedical Research and Study centre, Riga, Latvia, LT - Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
Principle Investigator: Dr. med. Baiba Lāce, Dr. biol. Inna Iņaškina
Defects in the oxidative phosphorylation system cause mitochondrial disease, manifesting at any age with non-specific clinical symptoms and highly variable within one family. Patients with primary mitochondrial disease usually suffer from the multisystem organ involvement with the highest demand for the ATP, like central nervous system, muscle, liver etc. The 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.