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Increased relative mitochondrial DNA content in leucocytes of patients with NAION
  1. K K Abu-Amero1,
  2. T M Bosley2,*
  1. 1Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
  2. 2Neuroscience Department, King Faisal Specialist Hospital and Research Centre, and Neuro-ophthalmology Service, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia
  1. Correspondence to: Dr Khaled K Abu-Amero Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Center (MBC # 03), PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia; kamero{at}kfshrc.edu.sa

Abstract

Aim: To investigate possible changes in relative mitochondrial DNA (mtDNA) content in patients with non-arteritic anterior ischaemic optic neuropathy (NAION).

Methods: 19 patients with NAION were compared to 32 controls matched for age, sex distribution, and ethnicity. DNA was extracted from leucocytes and competitive multiplex polymerase chain reaction was carried out with two primer pairs (one pair for mtDNA ND1 gene and the other pair for β actin nuclear gene) in the presence of a fluorescent dye.

Results: The mean relative mtDNA content in controls (0.93 (SD 0.11); 95% CI 0.89 to 0.97) was significantly less than in NAION patients (2.40 (1.05); 95% CI 1.90 to 2.91; p<0.001). Relative mtDNA content was negatively correlated with Snellen visual acuity (Spearman’s rho; r = −0.37; p = 0.022).

Conclusion: Increased relative mtDNA content in NAION patients may imply a response to oxidative stress, possibly in part because of mitochondrial respiratory chain defects. Significantly more non-synonymous mtDNA nucleotide changes, significantly increased relative mtDNA content, and a significant association between relative mtDNA content and visual acuity all imply that mitochondrial abnormalities may be a risk factor for NAION.

  • LHON, Leber’s hereditary optic neuropathy
  • mtDNA, mitochondrial DNA
  • NAION, non-arteritic anterior ischaemic optic neuropathy
  • PCR, polymerase chain reaction
  • ROC, receiver operator characteristic
  • VA, visual acuity
  • non-arteritic ischaemic optic neuropathy
  • mitochondrial DNA
  • Leber’s hereditary optic neuropathy
  • LHON, Leber’s hereditary optic neuropathy
  • mtDNA, mitochondrial DNA
  • NAION, non-arteritic anterior ischaemic optic neuropathy
  • PCR, polymerase chain reaction
  • ROC, receiver operator characteristic
  • VA, visual acuity
  • non-arteritic ischaemic optic neuropathy
  • mitochondrial DNA
  • Leber’s hereditary optic neuropathy

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Footnotes

  • * Current address: Division of Neurology, Cooper University Hospital, Camden, NJ 08104, USA.

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