POLG diseases are exceptionally variable in clinical manifestations most often affecting the nervous system, liver and the muscle. The TargetPOLG project will utilize novel mouse models and human materials to explore and identify molecular mechanisms that provoke manifestation of the POLG-disease manifestation and affect the progression. Our special focus is the brain and liver manifestations and modifying factors. We will use the molecular data to search for intervention targets, to be tested in our models, and when justified by the preclinical data, human pilot trials.
Anu Suomalainen Wartiovaara, MD, PhD
Academy Professor of Clinical Molecular Medicine, University of Helsinki
Chief Physician, Helsinki University Hospital, HUS diagnostic centre; Helsinki, Finland