Investigation of whole mitochondrial genome variation in normal tension glaucoma

Exp Eye Res. 2019 Jan;178:186-197. doi: 10.1016/j.exer.2018.10.004. Epub 2018 Oct 9.


Glaucoma is one of the leading causes of visual impairment and blindness worldwide. However, the cause of retinal ganglion cell loss and damage of the optic nerve in its pathogenesis is largely unknown. The high energy demands of these cells may reflect their strong dependence on mitochondrial function and thus sensitivity to mitochondrial defects. To address this issue, we studied whole mitochondrial genome variation in normal tension glaucoma patients and control individuals from the Polish population using next generation sequencing. Our findings indicate that few features of mitochondrial DNA variation are different for glaucoma patients and control subjects. New insights into normal tension glaucoma development are discussed. We provide also a comprehensive approach for mitochondrial DNA analysis and variant evaluation.

Keywords: Genetic variation; Mitochondria; Mitochondrial DNA; Next generation sequencing; Normal tension glaucoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Amplification
  • Gene Expression Profiling
  • Genetic Variation*
  • Genome, Mitochondrial / genetics*
  • Gonioscopy
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intraocular Pressure / physiology
  • Low Tension Glaucoma / genetics*
  • Male
  • Middle Aged
  • Tonometry, Ocular


  • DNA, Mitochondrial