1. Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients
- Author
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Antoni Vallbona-Garcia, Ilse H.J. Hamers, Florence H.J. van Tienen, Juan Ochoteco-Asensio, Tos T.J.M. Berendschot, Irenaeus F.M. de Coo, Birke J. Benedikter, Carroll A.B. Webers, Hubert J.M. Smeets, Theo G.M.F. Gorgels, Toxicogenomics, RS: MHeNs - R3 - Neuroscience, Oogheelkunde, RS: GROW - R1 - Prevention, MUMC+: MA UECM Onderzoekers (9), RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, and MUMC+: University Eye Center Maastricht (3)
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Cellular and Molecular Neuroscience ,Ophthalmology ,Oxidative stress ,Dysfunction ,Mtdna depletion ,Mechanisms ,Disease ,Trabecular meshwork ,Biomarker ,Optic neuropathy ,Sensory Systems ,Mutations ,Time - Abstract
Primary open-angle glaucoma (POAG) is characterized by optic nerve degeneration and irreversible loss of retinal ganglion cells (RGCs). The pathophysiology is not fully understood. Since RGCs have a high energy demand, suboptimal mitochondrial function may put the survival of these neurons at risk. In the present study, we explored whether mtDNA copy number or mtDNA deletions could reveal a mitochondrial component in POAG pathophysiology. Buffy coat DNA was isolated from EDTA blood of age- and sex-matched study groups, namely POAG patients with high intraocular pressure (IOP) at diagnosis (high tension glaucoma: HTG; n = 97), normal tension glaucoma patients (NTG, n = 37), ocular hypertensive controls (n = 9), and cataract controls (without glaucoma; n = 32), all without remarkable comorbidities. The number of mtDNA copies was assessed through qPCR quantification of the mitochondrial D-loop and nuclear B2M gene. Presence of the common 4977 base pair mtDNA deletion was assessed by a highly sensitive breakpoint PCR. Analysis showed that HTG patients had a lower number of mtDNA copies per nuclear DNA than NTG patients (p-value
- Published
- 2023
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