ATPAF2 and nervous system disorder: Besides mutations in the mtDNA encoded subunits, ATP synthase deficits induced by nDNA-encoded subunits, such as ATP5E and ATP5A1, as well as the assembly factors ATPAF2 (ATP12) and TMEM70, have also been observed in patients with neurological disorders (De Meirleir, 2004; Čížková et al., 2008; Mayr et al., 2010; Jonckheere et al., 2013).