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Role of biochemical factors in the pathogenesis of keratoconus

100%

Wojcik K., Blasiak J., Szaflik J., Szaflik J.

Acta Biochimica Polonica

2014

vol. 61

issue 1

55-62

Keratoconus (KC) is a corneal disease associated with structural abnormalities in the corneal epithelium, Bowman's layer and stroma and altered concentration of tear components. KC corneas show a different pattern of collagen lamellae than their normal counterparts. Also, a reduction of several collagen types in KC epithelium and stroma was observed. Altered expression and/or activity of lysyl oxidase, a critical enzyme of the biogenesis of connective tissue detected in KC corneas, may weaken covalent bonds between collagen and elastin fibrils, what may lead to biomechanical deterioration of the cornea. Increased activity of matrix metalloproteinases observed in KC may induce the degradation of the extracellular matrix causing damage to the cornea. Oxidative and nitrative stress play an important role in KC pathogenesis and KC corneas are characterized by the disturbed lipid peroxidation and nitric oxide pathways. Malfunctioning of these pathways may lead to accumulation of their toxic by-products inducing several detrimental effects, along with apoptosis of the corneal cells, which may result from the loss of β-actin or increased levels of cytokines, including interleukin-1 and -6. Change in the expression of genes associated with wound healing, including the nerve growth factor and the visual system homeobox 1, may contribute to increased susceptibility of KC corneas to injury. Consequently, biochemical changes may play an important role in KC pathophysiology and, therefore, can be considered in prevention, diagnosis, prognosis and in the therapy of this disease as well.

Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration

64%

Wysokinski D., Danisz K., Pawlowska E., Dorecka M., Romaniuk D., Robaszkiewicz J., Szaflik M., Szaflik J., Blasiak J., Szaflik J.

Acta Biochimica Polonica

2015

vol. 62

issue 2

177-184

The aim of the present study was to investigate the association of age related macular degeneration (AMD) risk with some aspects of iron homeostasis: iron concentration in serum, level of soluble transferrin receptor (sTfR), and transferrin receptor (TFRC) genetic variability. Four hundred and ninety one AMD patients and 171 controls were enrolled in the study. Restriction fragment length polymorphism PCR was employed to genotype polymorphisms of the TFRC gene, and colorimetric assays were used to determine the level of iron and sTfR. Multiple logistic regression was applied for all genotype/allele-related analyses and the ANOVA test for iron and sTfR serum level comparison. We found that the genotypes and alleles of the c.-253G > A polymorphism of the TFRC gene were associated with AMD risk and this association was modulated by smoking status, AMD family history, living environment (rural/urban), body mass index and age. The levels of sTfR was higher in AMD patients than controls, whereas concentrations of iron did not differ in these two groups. No association was found between AMD occurrence and the p.Gly142Ser polymorphism of the TRFC gene. The results obtained suggest that transferrin receptor and variability of its gene may influence AMD risk.

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2 Acta Biochimica Polonica

1 2015

1 2014

2 Blasiak J.

2 Szaflik J.

1 Danisz K.

1 Dorecka M.

1 Pawlowska E.

1 Robaszkiewicz J.

1 Romaniuk D.

1 Szaflik M.

1 Wojcik K.

1 Wysokinski D.

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Role of biochemical factors in the pathogenesis of keratoconus

Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration