Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
Dario Brunetti, Janniche Torsvik, Cristina Dallabona, Pedro Teixeira, Pawel Sztromwasser, Erika Fernandez-Vizarra, Raffaele Cerutti, Aurelio Reyes, Carmela Preziuso, Giulia D'Amati, Enrico Baruffini, Paola Goffrini, Carlo Viscomi, Ileana Ferrero, Helge Boman, Wenche Telstad, Stefan Johansson, Elzbieta Glaser, Per M Knappskog, Massimo Zeviani and Laurence A Bindoff
Article first published online: 23 DEC 2015 | DOI: 10.15252/emmm.201505894
A clinically peculiar neurodegenerative disorder in humans was indentified and shown to be caused by a pathogenic homozygous mutation in PITRM1, encoding an oligopeptidase of the mitochondrial inner compartment. The neuropathology of a PITRM1−/+ mouse provides genetic evidence that Aβ is present within mitochondria, and demonstrates a link between impaired PITRM1 activity and Aβ amyloidotic neurodegeneration in mammals.