Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.

PloS One
Edith E MuellerBarbara Kofler

Abstract

Onset and development of the multifactorial disease age-related macular degeneration (AMD) are highly interrelated with mitochondrial functions such as energy production and free radical turnover. Mitochondrial dysfunction and overproduction of reactive oxygen species may contribute to destruction of the retinal pigment epithelium, retinal atrophy and choroidal neovascularization, leading to AMD. Consequently, polymorphisms of the mitochondrial genome (mtDNA) are postulated to be susceptibility factors for this disease. Previous studies from Australia and the United States detected associations of mitochondrial haplogroups with AMD. The aim of the present study was to test these associations in Middle European Caucasians. Mitochondrial haplogroups (combinations of mtDNA polymorphisms) and mitochondrial CR polymorphisms were analyzed in 200 patients with wet AMD (choroidal neovascularization, CNV), in 66 patients with dry AMD, and in 385 controls from Austria by means of multiplex primer extension analysis and sequencing, respectively. In patients with CNV, haplogroup H was found to be significantly less frequent compared to controls, and haplogroup J showed a trend toward a higher frequency compared to controls. Five CR polymor...Continue Reading

References

Apr 16, 1998·Acta Ophthalmologica Scandinavica·Y IsashikiM Osame
Mar 5, 1999·Science·D C Wallace
Mar 12, 2005·Science·Robert J KleinJosephine Hoh
Jul 29, 2005·International Journal of Andrology·Luísa PereiraAntónio Amorim
May 25, 2006·JAMA : the Journal of the American Medical Association·Sharon ParmetRichard M Glass
Jul 18, 2006·Proceedings of the National Academy of Sciences of the United States of America·Yutaka ImamuraKazuo Tsubota
Oct 6, 2006·The New England Journal of Medicine·Paulus T V M de Jong
Sep 12, 2007·Archives of Ophthalmology·Michael M JonesCarolyn M Sue
Jun 14, 2008·The New England Journal of Medicine·Rama D JagerJoan W Miller
Jul 8, 2008·BMC Evolutionary Biology·Anita BrandstätterWalther Parson
Jul 16, 2008·The Journal of Biological Chemistry·Cristofol Vives-BauzaSilvia C Finnemann
Oct 14, 2008·Progress in Retinal and Eye Research·Stuart G JarrettMichael E Boulton
Oct 15, 2008·Human Mutation·Mannis van Oven, Manfred Kayser
Jan 20, 2009·Investigative Ophthalmology & Visual Science·Nitin UdarM Cristina Kenney
Sep 3, 2010·Genetics and Molecular Research : GMR·B Yacoubi LoueslatiL Mota-Vieira

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Citations

Apr 8, 2014·Comptes rendus biologies·Hélène Cwerman-ThibaultMarisol Corral-Debrinski
Jun 13, 2013·Trends in Genetics : TIG·G Jane FarrarSophia Millington-Ward
Feb 9, 2016·Experimental Eye Research·Deborah A FerringtonM Cristina Kenney
Aug 1, 2014·Expert Opinion on Therapeutic Targets·Eirini NitodaMarilita M Moschos
May 6, 2014·Mitochondrion·Ozgur GuneyHikmet Hakan Aydin
Mar 14, 2016·Clinical Oncology : a Journal of the Royal College of Radiologists·S TerrazzinoM Krengli
May 13, 2015·Human Molecular Genetics·Shari R AtilanoM Cristina Kenney
Nov 4, 2016·Open Forum Infectious Diseases·Rebecca T LevinsonDavid C Samuels
May 17, 2019·International Journal of Molecular Sciences·Kai KaarnirantaJanusz Blasiak
Oct 20, 2020·Experimental Eye Research·Kevin SchneiderM Cristina Kenney
Mar 19, 2019·Drug Discovery Today·M Pilar Bayona-BafaluyEduardo Ruiz-Pesini

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