April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Mitochondrial DNA Variations in Primary Congenital Glaucoma
Author Affiliations & Notes
  • T. Dada
    RP Centre for Ophthalmic Sciences,
    All India Institute of Medical Sciences, New Delhi, India
  • M. Tanwar
    Laboratory for Molecular Reproduction and Genetics, Department of Anatomy,
    All India Institute of Medical Sciences, New Delhi, India
  • A. Sharma
    Laboratory for Molecular Reproduction and Genetics, Department of Anatomy,
    All India Institute of Medical Sciences, New Delhi, India
  • M. Kumar
    Laboratory for Molecular Reproduction and Genetics, Department of Anatomy,
    All India Institute of Medical Sciences, New Delhi, India
  • R. Sihota
    RP Centre for Ophthalmic Sciences,
    All India Institute of Medical Sciences, New Delhi, India
  • A. Panda
    RP Centre for Ophthalmic Sciences,
    All India Institute of Medical Sciences, New Delhi, India
  • R. Dada
    Laboratory for Molecular Reproduction and Genetics, Department of Anatomy,
    All India Institute of Medical Sciences, New Delhi, India
  • Footnotes
    Commercial Relationships  T. Dada, None; M. Tanwar, None; A. Sharma, None; M. Kumar, None; R. Sihota, None; A. Panda, None; R. Dada, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2171. doi:https://doi.org/
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      T. Dada, M. Tanwar, A. Sharma, M. Kumar, R. Sihota, A. Panda, R. Dada; Mitochondrial DNA Variations in Primary Congenital Glaucoma. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2171. doi: https://doi.org/.

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

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Abstract

Purpose: : To screen mitochondrial genome for nucleotide changes in Primary congenital glaucoma (PCG).

Methods: : Patients with PCG presenting within 1 year of birth were included. There were 30 males and 4 females. The entire coding region of the mitochondrial genome was amplified by Polymerase Chain Reaction (PCR) in 34 PCG patients and 50 healthy controls. The whole mitochondrial genome except D-loop was sequenced. All sequences were analyzed against mitochondrial sequence NC_012920.

Results: : Mitochondrial DNA sequencing revealed 133 nucleotide variations in PCG patients and 57 in controls respectively. Out of 133 variations in PCG, 32 changes were novel. We identified 67 (50.37%) variations in complex I, 12 (9.02%) in complex III, 26 (19.54%) in complex IV and 23 (17.29%) in complex V. Out of total variations reported, complex I had 25 (37.8%), complex III had 3 (25%), complex IV had 7 (26.9%) and complex V had 11(47.82%) non-synonymous base changes respectively.

Conclusions: : PCG patients show a high number of Mitochondrial DNA variations. Mutations in mitochondrial genes regulating oxidative phosphorylation may result in decreased ATP and supra-physiological ROS (reactive oxygen species) levels. The resultant oxidative stress may impair development and differentiation of trabecular meshwork and result in trabecular dysgenesis.

Keywords: mitochondria • genetics • oxidation/oxidative or free radical damage 
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