MedicalResearch.com Interview with: Annakaisa Haapasalo, PhD Adjunct Professor Research Director (Associate Professor A.I. Virtanen Institute for Molecular Sciences Molecular Neurodegeneration University of Eastern Finland | UEF |   MedicalResearch.com: What is the background for this study? At what age might these changes be present? Response: Our research team is interested in understanding the underlying disease mechanisms and developing biomarkers for frontotemporal dementia (FTD). FTD is the second most common cause of dementia in the working age population. Presently, no efficient therapies exist for FTD, it is challenging to diagnose, and the disease mechanisms of different types of FTD remain largely unclear. We are especially interested in FTD associated with the C9orf72 repeat expansion because it is the most common genetic cause of frontotemporal dementia and exceptionally prevalent in Finnish FTD patients. Many current studies of FTD and C9orf72 repeat expansion have largely concentrated on examining neurons, as these are the principle CNS cells that are affected in neurodegeneration. Neurons are also one of our key research interests, but obtaining neurons directly from living patients is difficult in many ways. Therefore, we became interested in exploring the FTD patient skin fibroblasts with the idea in mind that they might represent more easily accessible patient-derived cells than neurons for trying to decipher disease mechanisms of FTD. Moreover, we were interested in finding out if these cells show any specific alterations or deficiencies that could be utilized later on in biomarker studies or testing drug effects.  (more…)