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. 2002 Sep;86(9):1027-30.
doi: 10.1136/bjo.86.9.1027.

Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation

M-Y Yen  1 , C-S Chen, A-G Wang, Y-H Wei
Affiliations

Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation

M-Y Yen et al. Br J Ophthalmol. 2002 Sep.

Abstract

Aims: To investigate the change of mitochondrial DNA (mtDNA) content in Leber's hereditary optic neuropathy (LHON) with 11778 mutation.

Methods: Mitochondrial DNA content in 27 LHON patients with 11778 mutation, 26 asymptomatic maternal relatives, and 23 normal controls was measured using a competitive polymerase chain reaction (PCR) method.

Results: The mean relative content of mtDNA (with respect to the beta actin gene) in LHON patients, asymptomatic maternal relatives, and normal controls was 245.5 (162.3), 238.2 (118.4), and 156.5 (61.6), respectively. There was a statistically significant difference between patients and controls and between relatives and controls. However, no statistically significant difference between patients and unaffected relatives was found. There was no statistically significant difference in the relative content of mtDNA between all males and females carrying 11778 mtDNA mutation

Conclusion: The results suggest that the increase in mtDNA content in LHON patients with 11778 mtDNA mutation may be due to a compensatory effect for respiratory chain defects of mitochondria. However, the increase of mtDNA content is the result rather than the cause of defective mtDNA. It still cannot explain the pathogenesis of LHON.

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Figures

Figure 1
Figure 1
Summary of competitive polymerase chain reaction method used in this study.
Figure 2
Figure 2
Comparison of the relative content of mtDNA in LHON patients, unaffected maternal relatives, and controls. The relative content of mtDNA in LHON patients (245.5 (162.3)) and unaffected maternal relatives (238.2 (118.4)) was higher than that of the controls (156.5 (61.6)) (p<0.05, Mann-Whitney test). However, the relative content of mtDNA between LHON patients and unaffected maternal relatives has no statistically significant difference (p>0.05, Mann-Whitney test).
Figure 3
Figure 3
The relative content of mtDNA between all males (242.4 (26.7)) and female (241.2 (27.9)) carrying 11778 mtDNA mutation has no statistically significant difference (p>0.05, Mann-Whitney test).
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