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CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency

Brockmann, Sarah J. ; Freischmidt, Axel ; Oeckl, Patrick ; Müller, Kathrin ; Ponna, Srinivas K. ; Helferich, Anika M. ; Paone, Christoph ; Reinders, Jörg ; Kojer, Kerstin ; Orth, Michael ; Jokela, Manu ; Auranen, Mari ; Udd, Bjarne ; Hermann, Andreas ; Danzer, Karin M. ; Lichtner, Peter ; Walther, Paul ; Ludolph, Albert C. ; Andersen, Peter M. ; Otto, Markus ; Kursula, Petri ; Just, Steffen ; Weishaupt, Jochen H.


Mutations in the mitochondrially located protein CHCHD10 cause motoneuron disease by an unknown mechanism. In this study, we investigate the mutations p. R15L and p. G66V in comparison to wild-type CHCHD10 and the non-pathogenic variant p. P34S in vitro, in patient cells as well as in the vertebrate in vivo model zebrafish. We demonstrate a reduction of CHCHD10 protein levels in p. R15L and p. ...


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