Résumé
Cellular primary cilium, located on the surface of virtually all mammalian cells, is a strictly conserved organelle which regulates cell biological process and maintains cell homeostasis by modulating cell proliferation, differentiation, migration, polarity, signal cascades and other life activities. Some diseases caused by mutations in genes encoding structural proteins or accessory proteins of primary cilia are collectively termed as "ciliopathies", which can occur in embryo, infancy and even adulthood. Ciliopathies not only involve a single organ, but also involve multiple organs and multiple systems, showing variable symptoms and overlapping symptoms. This review mainly summarizes the effects of ciliopathy-associated gene mutations on bone, tooth, skin, liver and bile duct, kidney, brain, retina, heart and other organs, uncovers their molecular mechanisms and provides some novel insights into therapy of ciliopathies.
Sujets)
Adulte , Animaux , Humains , Cils vibratiles , Ciliopathies/génétique , Protéines , Rétine , Transduction du signalRésumé
<p><b>AIM</b>To investigate the influence of L-arginine (NO donors, L-Arg) on spontaneous contractions of ileum in mice and study the effects of activation of beta-adrenoceptor on NO-induced inhibition in spontaneous contractions of ileum.</p><p><b>METHODS</b>The method of spontaneous contractions recording was used to investigate the effect of L-NNA, ODQ, Isoprenaline( beta-adrenoceptor agonist) and Propranolol (beta-adrenoceptor antagonist) on NO-induced inhibition in spontaneous contractions of ileum.</p><p><b>RESULTS</b>(1) L-Arg inhibited the spontaneous contractions of ileum and had concentration-response relationship. (2) L-NNA (3 x 10(-4) mol/L), ODQ (3 x 10(-6) mol/L) relieved the inhibitory effect of L-Arg in ileum . (3) Propronalol (3 x 10(-6) mol/L) decreased significantly the inhibitory effect of L-Arg. (4) Iso (1 x 10(-7) mol/L) increased the inhibitory effect of L-Arg. After Iso (1 x 10(-7) mol/L) and Propronalol (3 x 10(-6) mol/L) being coapplied, the inhibitory effect of L-Arg was not changed.</p><p><b>CONCLUSION</b>NOS catalyzed L-Arg and produced NO. NO exerted its inhibitory effect by the cGMP pathway, the activation of beta-adrenoceptor was partly involved in NO-induced relaxation in ileum.</p>