We also found that the mRNA expression of GRIA1 in the fibroblasts derived from patients with coenzyme Q10 deficiency or mitochondrial DNA m.3243 A > G mutation, who developed typical clinical cerebellar ataxia symptoms, was significantly lower than that in healthy donor-derived fibroblasts (GSE33940: log2 fold-change of −3.35 ± 0.27, P < 0.0001; unpaired Student’s t-test; GSE175477: log2 fold-change of −2.32 ± 0.65, P < 0.05; unpaired Student’s t-test) (Fig. 7e)61. Here, GRIA1 is linked to cerebellar ataxia.