The dynamic cilium in human diseases

Cilia are specialized organelles protruding from the cell surface of almost all mammalian cells. They consist of a basal body, composed of two centrioles, and a protruding body, named the axoneme. Although the basic structure of all cilia is the same, numerous differences emerge in different cell types, suggesting diverse functions. In recent years many studies have elucidated the function of 9+0 primary cilia. The primary cilium acts as an antenna for the cell, and several important pathways such as Hedgehog, Wnt and planar cell polarity (PCP) are transduced through it. Many studies on animal models have revealed that during embryogenesis the primary cilium has an essential role in defining the correct patterning of the body. Cilia are composed of hundreds of proteins and the impairment or dysfunction of one protein alone can cause complete loss of cilia or the formation of abnormal cilia. Mutations in ciliary proteins cause ciliopathies which can affect many organs at different levels of severity and are characterized by a wide spectrum of phenotypes. Ciliary proteins can be mutated in more than one ciliopathy, suggesting an interaction between proteins. To date, little is known about the role of primary cilia in adult life and it is tempting to speculate about their role in the maintenance of adult organs. The state of the art in primary cilia studies reveals a very intricate role. Analysis of cilia-related pathways and of the different clinical phenotypes of ciliopathies helps to shed light on the function of these sophisticated organelles. The aim of this review is to evaluate the recent advances in cilia function and the molecular mechanisms at the basis of their activity

Comparison of serum vascular endothelial growth factor in pre-eclamptic and normal pregnancies

OBJECTIVE: To determine whether pre-eclampsia is associated with alterations in maternal serum levels of vascular endothelial growth factor (VEGF), a mediator of endothelial cell growth and permeability. STUDY DESIGN: Samples of peripheral venous blood were obtained from 18 women with pre-eclampsia at term (37-42 weeks gestation) and from 18 controls matched for maternal age. gestational age, fetal weight, parity, and race Women with chronic hypertension, renal, or metabolic disease were excluded. Pre-eclampsia was classified as mild in 12 rases and as severe in 6. VEGF concentrations were measured in scrum samples using a sandwich Fl.ISA specific for YEGF (R £D Systems; Minneapolis, MN). Demographic and clinical data were anahzed with c2 analysis. \TGF levels were compared with the Mann-Whitney L test. RESULTS: Serum VEGF le\els were delectable (\u3e9 pM) in 11/18 pre-eclamptics and 11/18 controls (mean 163.7 ±24.7 pM, range 20-390 pM). \T,GF was detectable in 6/12 (50%) women with mild pre-eclampsia and in f\u3e/6 (83.?%) with severe pre-erlampsia. There were 8 matched pairs in which both study patients and their controls had detectable VF_GF levels. Among these, patients with preeclampsia had significantly higher \T.GF le\els than controls (135.4 ±89.5pM versus 29.8 ±3..\u3e ±102.8pM) were similar (P = 0.7) to the levels in severe preeclampsia (94 ±71.4pM). CONCLUSIONS: When detectable, serum VEGF levels are increased in patients with pre-eclampsia. Serum \T,GF levels are more likely to be detectable among patients with se\ere pre-eclampsia. Through ils ability to act as a mitogen for vascular endothelial cells, induction of vascular permeability, and promotion of coagulation, VEGF mav contribute to the endothelial cell activation characteristic of pre-eclampsia