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2015 | 2 | 1 | 13-20
Article title

Molecular genetics of exfoliation syndrome

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PL
Genetyka molekularna zespołu pseudoeksfoliacji
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EN PL
Abstracts
EN
Exfoliation syndrome is an age-related disorder of the extracellular matrix, characterized by progressive accumulation of abnormal fibrillar material in several ocular and extraocular tissues. Although the exact etiopathogenesis is still unknown, several genetic and environmental factors appear to be involved in disease pathogenesis. Recently, single nucleotide polymorphisms in lysyl oxidase-like 1 have been found to be strongly associated with exfoliation syndrome. Dysregulation of lysyl oxidase-like 1 specifity and activity, an enzyme with a role in tropoelastin cross-linking and elastin homeostasis is thought to be involved in the development of exfoliation syndrome. This review aims to examine the recent genetic findings in the disease process.
PL
Zespół pseudoeksfoliacji to związane z wiekiem zaburzenie macierzy zewnątrzkomórkowej, charakteryzujące się postępującym odkładaniem się nieprawidłowego materiału fibrylarnego w różnych tkankach oka i poza nimi. Dokładna etiopatogeneza choroby pozostaje nieznana, jednak wydaje się, że istnieje kilka czynników genetycznych i środowiskowych w nią zaangażowanych. Niedawno wykazano, że polimorfizmy pojedynczego nukleotydu w obrębie oksydazy lizynowej 1 są silnie powiązane z zespołem pseudoeksfoliacji. Dysregulacja swoistości i aktywności oksydazy lizynowej 1, czyli enzymu odgrywającego rolę w sieciowaniu tropoelastyny i homeostazie elastyny, jest uważana za jeden z czynników rozwoju zespołu pseudoeksfoliacji. Celem niniejszej pracy jest przeanalizowanie najnowszych doniesień dotyczących genetyki wspomnianego procesu chorobowego.
Discipline
Publisher
Journal
Year
Volume
2
Issue
1
Pages
13-20
Physical description
References
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article
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bwmeta1.element.psjd-a4cba8f2-a1c0-41c5-ad1f-28d1722083b2
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