Thus, this work focused on the role of mitochondria in AGS, both from a functional and a morphological point of view in lymphoblastoid cell lines (LCLs) derived from AGS patients mutated in the RNASEH2A and RNASEH2B genes, to ultimately establish the role of mitochondria in the pathogenesis of AGS. Here, RNASEH2B is linked to Aicardi-Goutieres syndrome.