Stem Cell modeling of Mitochondrial Parkinsonism reveals key functions of OPA1.
Mindaugas Jonikas MSc , Martin Madill PhD , Alexandre Mathy MD, PhD , Theresa Zekoll MSc , Christos E. Zois PhD , Simon Wigfield PhD , Marzena Kurzawa‐Akanbi PhD , Cathy Browne MSc , David Sims PhD , Patrick F. Chinnery MD, PhD , Sally A. Cowley PhD , George K. , Tofaris MD, PhD
Defective mitochondrial function attributed to optic atrophy 1 (OPA1) mutations causes primarily optic atrophy and, less commonly, neurodegenerative syndromes. The pathomechanism by which OPA1 mutations trigger diffuse loss of neurons in some, but not all, patients is unknown. Here, we used a tractable induced pluripotent stem cell (iPSC)‐based model to capture the biology of OPA1 haploinsufficiency in cases presenting with classic eye disease versus syndromic parkinsonism.