Cartilage-hair hypoplasia is one of the rare Finnish heritage diseases with poorly known pathophysiology. The disease is manifested by growth disorder and defective immunity and caused by mutations in a long non-coding RNA, RMRP, the functions of which are poorly known. As a part of the FinnDisMice research consortium, we created a mouse model for Cartilage-hair hypoplasia to improve the understanding of the pathological mechanisms causative for the disease. Our interests are to discover novel functions and interactors of Rmrp in mouse that can be translated to humans, to contribute to the discovery of biomarkers as well as development of diagnostic and therapeutic strategies for Cartilage-hair hypoplasia.
PIs: Petra Sipilä, PhD, adjunct professor
Members involved
Senior researchers: Guillermo Martinez-Nieto, PhD
Doctoral researchers: Inka Raimoranta, MSc.
Students: Tia Ekström
Technicians: Jenni Airaksinen
Selected publications about research
Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. The Finnish genetic heritage in 2022: from diagnosis to translational research. Disease Models & Mechanisms 2022, Oct 1;15(10):dmm049490. https://doi.org/10.1242/dmm.049490
Zárybnický T, Heikkinen A, Kangas SM, Karikoski M, Martínez-Nieto GA, Salo MH, Uusimaa J, Vuolteenaho R, Hinttala R, Sipilä P, Kuure S. Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage. Cells 2021, 10, 3158. https://doi.org/10.3390/cells10113158