HÜCRE ISKELETININ FONKSIYONLARI VE HASTALIKLARLA ILIŞKISI
4.ARA FILAMENTLER
5.4. Cilt Hastalıkları ve Hücre Iskeleti
Hücre iskeletinin elemanı olan ara filamentlerin en büyük ailesi kera-tinlerdir. Tip I ve Tip II olarak ayrılırlar ve 10 nm filamentlerden oluşan yoğun bir ağ örgüsüyle epitel hücrelerin sitoplazmasında eksprese edilirler (36).Çeşitli keratin genlerindeki mutasyonların epidermisi ve diğer epitel yapılarını etkileyen çeşitli hastalıklara neden olduğu bulunmuştur.
K5 ve K14 keratin genlerinde mutasyon sebebiyle oluşan epidermo-lisis bulloza hastalığı tanımlanan ilk keratin ilişkili hastalıktır. Bu hastalık sonucunda bazal epidermal keratinositler travmaya karşı daha az dirençli hale gelir ve cilt kırılganlığı artarak deride kabarcıklar oluşur (37). Hasta-lığının tanımlanmasını takip eden yıllarda farklı mutasyonlar sonucunda oluşan farklı alttipleri de tanımlanmıştır. Epidermolisis Bulloza alttipleri ve sebep olan mutasyonlar tabloda gösterilmiştir.
Epidermolisis Bulloza hastalığı dışında keratin hastalığı olarak tanım- lanan farklı keratin mutasyonlarıyla gelişen bir çok cilt hastalığı bulun- maktadır. Bu hastalıklar arasında, Epidermolitik hiperkeratoz, Büllöz kon- jenital iktiyoziform eritrodermi, Yaygın epidermolitik olmayan palmop-lantar keratoderma, Meesmann’ın kornea distrofisi, Siemens Ichthyosis bullosa, Beyaz sünger nevüs hastalığı, Konjenital pakyonişi, Epidermolitik palmoplantar keratoderma, Fokal epidermolitik olmayan palmoplantar ke-ratoderma gibi hastalıklar sayılabilir (39).
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