Mitochondrial Polymorphism A10398G and Haplogroup I Are Associated With Fuchs' Endothelial Corneal Dystrophy

“…Thus, maternal transmission is a potential susceptibility factor that warrants further investigation, particularly in light of studies suggesting the role of mitochondrial variants in the disease. 36 , 37 …”

Section: Discussionmentioning

confidence: 99%

Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

Afshari

et al. 2021

Invest. Ophthalmol. Vis. Sci.

Self Cite

View full text Add to dashboard Cite

“…Variations in mtDNA affect the susceptibility of FECD. Mitochondrial variant A10398G and Haplogroup I were significantly associated with FECD [58]. There are few studies showing the role of mtDNA in the pathogenesis of FECD.…”

Section: Corneal Dystrophymentioning

confidence: 96%

Mitochondria and Eye

Singh¹,

Singh²

2022

Mutagenesis and Mitochondrial-Associated Pathologies

View full text Add to dashboard Cite

Mitochondria are essential subcellular organelles and important key regulators of metabolism. Mammalian mitochondria contain their own DNA (mtDNA). Human mtDNA is remarkably small (16,569 bp) compared to nuclear DNA. Mitochondria promote aerobic respiration, an important part of energy metabolism in eukaryotes, as the site of oxidative phosphorylation (OXPHOS). OXPHOS occurs in the inner membrane of the mitochondrion and involves 5 protein complexes that sequentially undergo reduction-oxygen reactions ultimately producing adenosine triphosphate (ATP). Tissues with high metabolic demand such as lungs, central nervous system, peripheral nerves, heart, adrenal glands, renal tubules and the retina are affected preferentially by this critical role in energy production by mitochondrial disorders. Eye-affected mitochondrial disorders are always primary, but the role of mitochondrial dysfunction is now best understood in acquired chronic progressive ocular diseases. Recent advances in mitochondrial research have improved our understanding of ocular disorders. In this chapter, we will discuss the mitochondria in relation to eye diseases, ocular tumors, pathogenesis, and treatment modalities that will help to improve the outcomes of these conditions.

show abstract

Mitochondrial Polymorphism A10398G and Haplogroup I Are Associated With Fuchs' Endothelial Corneal Dystrophy

Abstract: The 10398G allele and Haplogroup I appear to confer significant protective effects for FECD. The effect of A10398G and Haplogroup I to FECD is likely independent of the known TCF4 variant. More data are needed to decipher the interaction between smoking and mtDNA haplogroups.

Cited by 12 publications

References 55 publications

Fuchs Corneal Dystrophy

Fuchs Corneal Dystrophy

Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

Mitochondria and Eye

Contact Info

Product

Resources

About