Mitochondrial Haplogroup U is Associated with a Reduced Risk to Develop Exfoliation Glaucoma in the German Population
Overview
Molecular Biology
Authors
Affiliations
Background: Various lines of evidence demonstrate the involvement of mitochondrial dysfunction in the pathogenesis of glaucoma. Therefore, mitochondrial DNA is a promising candidate for genetic susceptibility studies on glaucoma. To test the hypothesis that mitochondrial haplogroups influence the risk to develop glaucoma, we genotyped 12 single-nucleotide polymorphisms that define the European mitochondrial DNA haplogroups in healthy controls and two German patient cohorts with either exfoliation glaucoma or the normal tension subgroup of primary open angle glaucoma.
Results: Mitochondrial haplogroup U was significantly under-represented in patients with exfoliation glaucoma (8.3% compared with 18.9% in controls; p = 0.004).
Conclusions: People with haplogroup U have a lower risk to develop exfoliation glaucoma. Our results substantiate the suggestion that mitochondrial alterations have an impact on the etiology of glaucoma.
Mitochondria: The Retina's Achilles' Heel in AMD.
Ferrington D, Kenney M, Atilano S, Hurley J, Brown E, Ash J Adv Exp Med Biol. 2021; 1256:237-264.
PMID: 33848005 DOI: 10.1007/978-3-030-66014-7_10.
Bris C, Goudenege D, Desquiret-Dumas V, Charif M, Colin E, Bonneau D Front Genet. 2019; 9:632.
PMID: 30619459 PMC: 6297213. DOI: 10.3389/fgene.2018.00632.
Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma.
Singh L, Crowston J, Lopez Sanchez M, Van Bergen N, Kearns L, Hewitt A Invest Ophthalmol Vis Sci. 2018; 59(11):4598-4602.
PMID: 30242360 PMC: 6138263. DOI: 10.1167/iovs.18-25085.
Mitochondrial disorders and the eye.
Van Bergen N, Chakrabarti R, ONeill E, Crowston J, Trounce I Eye Brain. 2017; 3:29-47.
PMID: 28539774 PMC: 5436186. DOI: 10.2147/EB.S16192.
Wiley L, Ashok D, Martin-Ruiz C, Talbot D, Collerton J, Kingston A PLoS One. 2014; 9(3):e91005.
PMID: 24614678 PMC: 3948743. DOI: 10.1371/journal.pone.0091005.