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Journals / Glokom Katarakt / 2008 / Cilt: 3 - Sayı: 3

Association between LOXL1 and pseudoexfoliation

Psödoeksfoliasyon ve LOXL1 gen birlikteliği

Nurşen YÜKSEL
Pages
143–146
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Further studies are necessary to determine other genetic factors and environmental effects in patients with pseudoexfoliation syndrome.

📌 3 Key Takeaways

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Objective & Hypothesis:Pseudoexfoliation syndrome (PXS) is a common age-related disorder in which abnormal fibrillar matrix material is produced and accumulated in many ocular tissues.
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Key Findings & Data:PXS may be seen between 10% and 20% of the general population over age of 60 and it is the most common identifiable cause of open angle glaucomas throughout the world.
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Conclusion & Impact:Further studies are necessary to determine other genetic factors and environmental effects in patients with pseudoexfoliation syndrome.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Genetik · Glokom · Eksfoliasyon sendromu

Abstract

Pseudoexfoliation syndrome (PXS) is a common age-related disorder in which abnormal fibrillar matrix material is produced and accumulated in many ocular tissues. PXS may be seen between 10% and 20% of the general population over age of 60 and it is the most common identifiable cause of open angle glaucomas throughout the world. Recently, there is increasing evidence for systemic associations of PXS with cardiovascular and cerebrovascular system disease. The exact etiology, pathogenesis of PXS and chemical composition of pseudoexfoliation material are still unknown. Most recently, Thorleifsson et al showed a highly significant association between 3 single nucleotide polymorphism (SNPs) in thelysyl oxidase-like protein 1(LOXL1) and pseudoexfoliation glaucoma. Also, other genetic studies have confirmed the strong association between SNPs in the LOXL1 and pseudoexfoliation in a various worldwide populations. LOXL1 is one of the member of a family of proteins that catalyze the polymerization of tropoelastin to form the mature elastin polymer. The defective gene might contribute to abnormal synthesis of elastic fibers in pseudoexfoliation syndrome. Pseudoexfoliation material has a complex nature that can not explained by only LOXL1 gene. Other genes related to elastic fiber and extracellular matrix synthesis may contribute to elastosis in pseudoexfoliation. Further studies are necessary to determine other genetic factors and environmental effects in patients with pseudoexfoliation syndrome.

Özet

Psödoeksfoliasyon sendromu (PES) anormal extrasellüler matriks materyalinin çeşitli oküler dokularda yapılması ve birikmesi ile karakterize yaşa bağlı elastozis olarak olarak tanımlanır. 60 yaş ve üzerinde %10-%20 sıklıkla görülen PES tüm dünyada glokomun bilinen en sık nedenidir. Son zamanlarda, PES’un kardiovasküler ve serebrovasküler sistem hastalıklarıyla birlikteliğini gösteren çalışmalarda artış vardır. PES patogenezi ve psödoeksfoliasyon materyalinin kimyasal yapısı henüz tam olarak bilinmemektedir. Son zamanlarda, Thorleifsson ve ark. PES ve glokomunda lysyl oxidase-like protein 1 geninde (LOXL1) geninin üç tek nükleotid polimorfizm (SNPs) ile güçlü bir birliktelik olduğunu saptamışlardır. Bunu takiben genetik çalışmalarda dünyanın çeşitli popülasyonlarında da bu birliktelik gösterilmiştir. Ektrasellüler enzim ailesinden biri olan LOXL1 geni elastik fibril formasyonu ve kollojen çapraz bağlarının bağlanmasına izin veren enzimlerden biridir. LOXL1 gen defekti anormal elastik fibril sentezine ve pseudoexfoliasyon gelişmesine yol açabilir. Psödoeksfoliasyon materyali kompleks bir yapıya sahiptir ve sadece LOXL1 gen polimorfizmi ile ethiyolojiyi açıklamak mümkün değildir. ve elastik lifler ve ektrasellüler matriks sentezi ile ilgili farklı genler psödoeksfoliasyonda elastosise katkıda bulunabilir. PES’da diğer genetik faktörlerin ve çevresel etkilerin saptanması için daha fazla çalışmaya ihtiyaç vardır.

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Cite This Article

YÜKSEL, N. (2008). Association between LOXL1 and pseudoexfoliation. Glokom Katarakt, Cilt: 3 - Sayı: 3, 143–146. https://ajindex.com/articles/226607

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