Fuchs endothelial corneal dystrophy (FECD) is a slowly progressive eye disease leading to blindness, mostly affecting people above 40 years old. The only known method of curing FECD is corneal transplantation. The disease is characterized by the presence of extracellular deposits called “cornea guttata”, apoptosis of corneal endothelial cells, dysfunction of Descement’s membrane and corneal edema. Oxidative stress is suggested to play a role in FECD pathogenesis. Reactive oxygen species produced during the stress may damage biomolecules, including DNA. In the present study we evaluated the extent of endogenous DNA damage, including oxidatively modified DNA bases, and damage induced by hydrogen peroxide as well as the kinetics of DNA repair in peripheral blood mononuclear cells of 50 patients with FECD and 43 age-matched controls without visual disturbances. To quantify DNA damage and repair we used the alkaline comet assay technique with the enzymes recognizing oxidative DNA damage, hOGG1 and EndoIII. We did not observe differences in the extent of endogenous and hydrogen peroxide-induced DNA damage between FECD patients and controls. However, we found a lower efficacy of DNA repair in FECD patients as compared with control individuals. The results obtained suggest that the lowering of the DNA repair capacity may be one of the mechanisms underlying the role of oxidative stress in the FECD pathology.
In this study Polish population data as well as efficiency parameters of 12 STR included in the Investigator HDplex set were presented. This set contains 9 systems not available in any other commercial multiplexes, ie.: D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325 and D21S2055. The evaluation was preformed based on DNA samples derived from 303 unrelated individuals living in Lodz region, central part of Poland. The obtained distribution of the genotypes is consistent with the assumptions of the Hardy and Weinberg equilibrium (HWE). It reflects properly genetic structure of the studied population compared with other populations of Europe and the world. It indicates the linkage equilibrium within the pairs of investigated, as well as with regard to other syntenic . The total value of the power of exclusion (PE) and the random match probability (MP) were respectively 0.99999988 and 5.2 × 10. Therefore the polymorphism of examined genetic markers within the Investigator HD-plex multiplex allows for a significant increase of the evidence value. Thus it constitutes an excellent tool for resolving difficult cases in the field of forensic genetics.
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