Author/Editor		Gregorič, Alojz
Title		Ciliopatije pri otrocih - kratek pregled
Translated title		Ciliopathies in children - a short overview
Type		članek
Vol. and No.		Letnik 19, št. 1
Publication year		2012
Volume		str. 44-48
ISSN		1318-4423 - Slovenska pediatrija [Združenje pediatrov Slovenije]
Language		slv
Abstract		V zadnjih letih je prišlo do pomembnega napredka pri razumevanju funkcije primarnih migetalk. Primarne migetalke so specializirani organeli, ki štrlijo s površine skoraj vseh celic pri sesalcih (in človeku). Mutacije v genih, ki kodirajo migetalčne beljakovine, povzročajo spremembe v sestavi in delovanju primarnih migetalk. Te spremembe so odgovorne za razvoj bolezni, ki se imenujejo ciliopatije. Za omenjene bolezni so značilne ledvične ciste (avtosomno recesivna in dominantna policistična ledvična bolezen, nefronoftizaitd.), jeterne ciste (sindrom Meckel - Gruber itd.) in malformacije v možganih (sindrom Joubert, sindrom Bardet - Biedl itd.). Migetalke imajo tudi pomembno vlogo pri razvoju drugih tkiv (okostje , dentin, očesna mrežnica, srce itd.). Odkrivajo in prevajajo v celico mehanske, kemijske in osmotske signale in delujejo kot relejno središče, v katerem se združujejo različni signali in signalne poti. Pred kratkim so s poskusi na živalih ugotovili, da so na področju cističnih bolezni možni tudi uspešni terapevtski posegi (z zdravili se upočasni napredovanje cist). V našem kratkem pregledu ciliopatij pri otrocih smo se osredotočili na vlogo primarnih migetalk v ledvicah, jetrih in možganih, to je v treh organih, ki so pri ciliopatijah najbolj prizadeti. Opisali pa smo tudi disfunckijo migetalk v nekaterih drugih tkivih.In recent years a significant progress has been made towards understanding primary cilia function. Primary cilia are specialized organelles that extend from the cell surface of almost all mammalian (and human) cells. Mutations in genes encoding for ciliary proteins cause alterations in the structure and function of primary cilia. These alterations are responsible for the development of diseases named ciliopathies. These disease are characterized by kindey cysts (autosomal recessive and dominant polycystic kindey disease, nephronophthisis etc.), hepatic cystics (Meckel - Gruber syndrome etc.) and by malformations of the central nervous system (Joubert syndrome, Bardet - Biedel syndrome etc.) Cilia also have a major role in the development of other tissues (skeleton, dentin, retina, heart etc. ) They detect and transduce mechanical, chemical and osmotic signals to the cell and act as a relaying center in which different signals and pathways are integrated. Recently, it has been shown that successful therapeutic interventions in different animal models of cystic disease are possible (use of drugs to slow cyst progression). In our short overview of ciliopathies in children we focused on the role of primary cilia in the kidney, liver and central nervous system, the three organs mainly affected in ciliopathies. Accordingly, ciliary dysfunction in some other tissues have also been described.
Descriptors		Cilia Migetalke Kidney Ledvica Liver Jetra Central Nervous System Centralni živčni sistem Child Otrok Abnormalities Nepravilnosti Abnormalities Nepravilnosti Abnormalities Nepravilnosti