Mitochondrial DNA Variants Mediate Energy Production and Expression Levels for CFH, C3 and EFEMP1 Genes: Implications for Age-Related Macular Degeneration

@inproceedings{Kenney2013MitochondrialDV,
  title={Mitochondrial DNA Variants Mediate Energy Production and Expression Levels for CFH, C3 and EFEMP1 Genes: Implications for Age-Related Macular Degeneration},
  author={M. Cristina Kenney and Marilyn Chwa and Shari R. Atilano and Janelle M. Pavlis and Payam Falatoonzadeh and Claudio Ram{\'i}rez and Deepika Malik and Tiffany W. Hsu and Grace Woo and Kyaw Swar Soe and Anthony B. Nesburn and David S Boyer and Baruch D. Kuppermann and S. Michal Jazwinski and Michael V. Miceli and Douglas C. Wallace and Nitin S Udar},
  booktitle={PloS one},
  year={2013}
}
BACKGROUND Mitochondrial dysfunction is associated with the development and progression of age-related macular degeneration (AMD). Recent studies using populations from the United States and Australia have demonstrated that AMD is associated with mitochondrial (mt) DNA haplogroups (as defined by combinations of mtDNA polymorphisms) that represent Northern European Caucasians. The aim of this study was to use the cytoplasmic hybrid (cybrid) model to investigate the molecular and biological… CONTINUE READING
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