Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration

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 o...

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Veröffentlicht in:	PloS one 2013-01, Vol.8 (1), p.e54339-e54339
Hauptverfasser:	Kenney, M Cristina, Chwa, Marilyn, Atilano, Shari R, Pavlis, Janelle M, Falatoonzadeh, Payam, Ramirez, Claudio, Malik, Deepika, Hsu, Tiffany, Woo, Grace, Soe, Kyaw, Nesburn, Anthony B, Boyer, David S, Kuppermann, Baruch D, Jazwinski, S Michal, Miceli, Michael V, Wallace, Douglas C, Udar, Nitin
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphate - biosynthesis Age Age related diseases Aging Arthritis Biology Care and treatment Cell division Cells, Cultured Cellular proteins Complement C3 - genetics Complement C3 - metabolism Complement Factor H - genetics Complement Factor H - metabolism Cybrids Deoxyribonucleic acid Development and progression Diabetic retinopathy Disease DNA DNA, Mitochondrial - genetics DNA, Mitochondrial - metabolism Energy Epithelial cells Epithelial Cells - cytology Epithelial Cells - metabolism Extracellular Matrix Proteins - genetics Extracellular Matrix Proteins - metabolism Gene Expression Genes Genetic aspects Genetic variation Glaucoma Haplotypes Health aspects Humans Hybrid Cells - metabolism Hybrid Cells - pathology Lactic acid Lactic Acid - metabolism Macular degeneration Macular Degeneration - genetics Macular Degeneration - metabolism Macular Degeneration - pathology Medicine Metabolism Mitochondria Mitochondria - genetics Mitochondria - metabolism Mitochondrial DNA Models, Biological Myosin VIIa Myosins - genetics Myosins - metabolism Oxygen Physicians Population studies Proteins Reactive nitrogen species Reactive Nitrogen Species - metabolism Reactive oxygen species Reactive Oxygen Species - metabolism Retina Retinal degeneration Retinal Pigment Epithelium - cytology Retinal Pigment Epithelium - metabolism Signal transduction Signal Transduction - genetics Signaling
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