Rola wybranych czynników genetycznych i epigenetycznych w patogenezie zwyrodnienia plamki związanego z wiekiem.
Authors: Zofia Ulańczyk, Anna Machalińska.

The Role of Selected Genetic and Epigenetic Factors in the Pathogenesis of Ąge-related Macular Degeneration.

Wydanie 2/2021
str. 9 – 15

Autorzy: Zofia Ulańczyk1, Anna Machalińska2

1 Zakład Patologii Ogólnej Pomorskiego Uniwersytetu Medycznego w Szczecinie
Kierownik: prof. dr hab. n. med. Bogusław Machaliński
2 I Katedra i Klinika Okulistyki Pomorskiego Uniwersytetu Medycznego w Szczecinie
Kierownik: prof. dr hab. n. med. Anna Machalińska


Age-related macular degeneration is a degenerative retinal disease which is the leading cause of blindness in developed countries. So far, the involvement of various biological processes (including oxidative stress, pathological angiogenesis and inflammation) in the development and progression of age-related macular degeneration has been proposed, however, the multifactorial pathogenesis of this disease is still unclear. It seems that both genetic and environmental factors appear to play a significant role in the pathogenesis of age-related macular degeneration.

Two major polymorphisms strongly associated with age-related macular degeneration have been described, which together account for over 50% of hereditary age-related macular degeneration cases: CFH Y402H (complement factor H) and ARMS2 A69S (age-related maculopathy susceptibility 2). New sequencing techniques have allowed the identification of polymorphisms in subsequent genes that may be risk factors for age-related macular degeneration, including in genes related to the complement system, immune response, lipid metabolism and transport, and the proper functioning of photoreceptors. In addition to genetic factors, an increasing role in the pathogenesis of age-related macular degeneration is attributed to epigenetic factors that affect gene expression but are not associated with changes in DNA. Recently, microRNAs, which are short, non-coding RNAs that regulate gene expression, have been named as regulators of a variety of biological processes, which may contribute to age-related macular degeneration pathogenesis. Changes in miRNA expression are associated with numerous disease processes, including age-related macular degeneration, thus the potential use of miRNAs as biomarkers appears to be promising.

In this paper, we present current knowledge on the genetics and epigenetics of age-related macular degeneration, with a particular focus on single nucleotide polymorphisms associated with an increased risk of age-related macular degeneration and miRNAs regulating crucial biological processes contributing to age-related macular degeneration pathogenesis. Maintaining an appropriate balance between systemic factors and miRNAs seems to be essential for sustaining retinal homeostasis, and disturbances in this balance may play an important role in the multifactorial pathogenesis of age-related macular degeneration.