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2017, Number 1

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Cuba y Salud 2017; 12 (1)

Primary cilium dysfunction and its relationship with ciliopathies. Molecular and cellular bases

Ramírez CZ, Francis ZD, González NL

Language: Spanish
References: 43
Page: 45-52
PDF size: 240.15 Kb.


ABSTRACT

Objective: To explain the structural and functional relationship of the primary cilium dysfunction in genetic diseases called ciliopathies.
Development: Ciliary dysfunctions are closely linked to a broad spectrum of diseases called ciliopathies, defined as a group of clinically and genetically heterogeneous syndromes. They are caused by defects in the formation or function of some varieties of cilia. Several studies focus on clarifying how the ciliary dysfunction may develop these diseases include common phenotypic traits such as polycystic kidneys, mental retardation and obesity; also they involve defects in the skeletal system and defects in developing organs of the central nervous system. Currently, the identification of components involved in the generation and function of these organelles and the structure-function relationship is considered as a key step in understanding the biology and ciliary etiology of ciliopathies. The wide distribution of varieties of cilia and organic functions essentially the primary cilium, allows its dysfunctions relate to the ciliopathies and open a field explanations to numerous diseases whose structural-molecular causes were unknown.
Conclusions: Defects in the formation and function of primary cilia are the foundation of the ciliopathies, which affect the development, and function of various organ systems. The spectrum of ciliary function in fundamental cellular processes, stresses the importance of clarifying the proteins related to ciliopathies to find potential new therapies.


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