Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Periasamy SundaresanDavid A SimpsonChitra SambareSeamus DuffyJudith LechnerAditi DastaneEdward W DervanNeeru VallabhVidya ChelerkarMadan DeshpandeColm O'BrienAmy Jayne McKnightColin E WilloughbyPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2014)
Massively parallel sequencing using the Ion Torrent Personal Genome Machine with confirmation by Sanger sequencing detected a pathogenic mitochondrial DNA mutation in 50% of the primary open-angle glaucoma cohort. Our findings support the emerging concept that mitochondrial dysfunction results in the development of glaucoma and, more specifically, that complex I defects play a significant role in primary open-angle glaucoma pathogenesis.