» Articles » PMID: 20109175

Mitochondrial Haplogroup U is Associated with a Reduced Risk to Develop Exfoliation Glaucoma in the German Population

Overview
Journal BMC Genet
Publisher Biomed Central
Date 2010 Jan 30
PMID 20109175
Citations 10
Authors
Affiliations
Soon will be listed here.
Abstract

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.

Citing Articles

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.


Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.

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.


Reactive oxygen species production and mitochondrial dysfunction in white blood cells are not valid biomarkers of ageing in the very old.

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.


References
1.
Singh K, Kulawiec M . Mitochondrial DNA polymorphism and risk of cancer. Methods Mol Biol. 2008; 471:291-303. PMC: 2825891. DOI: 10.1007/978-1-59745-416-2_15. View

2.
van der Walt J, Dementieva Y, Martin E, Scott W, Nicodemus K, Kroner C . Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett. 2004; 365(1):28-32. DOI: 10.1016/j.neulet.2004.04.051. View

3.
Carelli V, Achilli A, Valentino M, Rengo C, Semino O, Pala M . Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet. 2006; 78(4):564-74. PMC: 1424694. DOI: 10.1086/501236. View

4.
Torroni A, Lott M, Cabell M, Chen Y, Lavergne L, Wallace D . mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet. 1994; 55(4):760-76. PMC: 1918284. View

5.
Quigley H, Broman A . The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006; 90(3):262-7. PMC: 1856963. DOI: 10.1136/bjo.2005.081224. View