Ciliopatije pri otrocih - kratek pregled
Ciliopathies in children - a short overview

slovenian

2012

volume 19, issue 1

Društvo za pomoč otrokom s presnovnimi motnjami
(Obvezni izvod spletne publikacije)

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.

14.01.2025