In human cells, both ERAL1 knockdown and the Perrault syndrome N236I mutation significantly destabilized the mitochondrial SSU, impacting the mitochondrial protein synthesis and respiration (Dennerlein et al., 2010; Uchiumi et al., 2010; Chatzispyrou et al., 2017). The gene discussed is ERAL1; the disease is Perrault syndrome.