June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Reduced mitochondrial DNA copy number in peripheral blood lymphocytes of POAG patients
Author Affiliations & Notes
  • Antoni Vallbona Garcia
    University Eye Clinic Maastricht, Maastricht Universitair Medisch Centrum+, Maastricht, Limburg, Netherlands
    Toxicogenomics, Universiteit Maastricht, Maastricht, Limburg, Netherlands
  • Ilse Hamers
    Toxicogenomics, Universiteit Maastricht, Maastricht, Limburg, Netherlands
  • Florence van Tienen
    Toxicogenomics, Universiteit Maastricht, Maastricht, Limburg, Netherlands
  • Irenaeus de Coo
    Toxicogenomics, Universiteit Maastricht, Maastricht, Limburg, Netherlands
  • Carroll A. B. Webers
    University Eye Clinic Maastricht, Maastricht Universitair Medisch Centrum+, Maastricht, Limburg, Netherlands
  • Hubert Smeets
    Toxicogenomics, Universiteit Maastricht, Maastricht, Limburg, Netherlands
    Research school of mental health and neuroscience, Universiteit Maastricht, Maastricht, Limburg, Netherlands
  • Theo G M F Gorgels
    University Eye Clinic Maastricht, Maastricht Universitair Medisch Centrum+, Maastricht, Limburg, Netherlands
    Research school of mental health and neuroscience, Universiteit Maastricht, Maastricht, Limburg, Netherlands
  • Footnotes
    Commercial Relationships   Antoni Vallbona Garcia None; Ilse Hamers None; Florence van Tienen None; Irenaeus de Coo None; Carroll Webers Alcon, Novartis, Santen, Code C (Consultant/Contractor), Alcon, Santen, Code S (non-remunerative); Hubert Smeets None; Theo Gorgels None
  • Footnotes
    Support  Supported by a grant from the “Oogfonds” and the “Glaucoomfonds”, contributing through UitZicht (nr 2019-18)
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 2706 – A0070. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Antoni Vallbona Garcia, Ilse Hamers, Florence van Tienen, Irenaeus de Coo, Carroll A. B. Webers, Hubert Smeets, Theo G M F Gorgels; Reduced mitochondrial DNA copy number in peripheral blood lymphocytes of POAG patients. Invest. Ophthalmol. Vis. Sci. 2022;63(7):2706 – A0070.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : Glaucoma is a group of complex optic neuropathies, which cause vision loss in more than 70 million people worldwide. Its pathophysiology is not fully understood. Since retinal ganglion cells (RGCs) have a high energy demand, suboptimal mitochondrial function may put the survival of these neurons at risk. In the present study, we explored if peripheral blood lymphocytes (PBL) mitochondrial DNA (mtDNA) quantity or quality could reflect a role for mitochondrial impairment in development of primary open angle glaucoma (POAG).

Methods : We have selected four age- and sex-matched groups, namely POAG patients with high intraocular pressure at diagnosis (high tension glaucoma: HTG; n=98), normal tension glaucoma patients (NTG, n=37), ocular hypertensive controls (n=9), and cataract controls (n=32), all without remarkable comorbidities. PBL DNA was isolated and mtDNA copy number was assessed by qPCR quantification of mitochondrial D-loop and nuclear B2M gene. MtDNA copy number comparison between the groups was conducted using Kruskall-Wallis test combined with Dunn’s multiple comparison test in GraphPad Prism and R software (V4.1.2). In addition, the presence of the common 4,977 base pair mtDNA deletion was assayed by a sensitive PCR, which amplified the region containing the specific breakpoints in the mitochondrial genome.

Results : Analysis of the mtDNA copy number revealed a significant reduction in HTG patients (median mtDNA copies per cell: 60.82, interquartile range (IQR): 47.75-80.26) compared with NTG patients (median mtDNA copies per cell: 76.77, IQR: 62.30-99.54, p-value < 0.01) and cataract controls (median mtDNA copies per cell: 85.90, IQR: 71.82-105.1, p-value < 0.001), but not with ocular hypertensive controls (median mtDNA copies per cell: 77.22, IQR: 67.98-109.8). The common 4,977 base pair mtDNA deletion was not detected in any of the participants.

Conclusions : The mtDNA copy number was reduced in PBL-DNA of HTG patients. Most likely, this reflects a suboptimal mitochondrial function, which together with ageing and/or high intraocular pressure, may lead to mitochondrial dysfunction during life in RGCs and may contribute to glaucoma pathology in some HTG patients. These patients may be amenable for a mitochondria-targeted drug treatment.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×