Thread by @drM_sudha

1/ 💥Hello, #Nephtwitter 💥
⚡️Let’s talk a little bit about #ciliopathies today.
⚡️How are Nephronophthisis (NPHP), polycystic kidney disease (PKD), & in fact many cystic diseases (aka #ciliopathies) related?!
Join me in the exploration-
#tweetorial #MedTwitter #ASPNeph #NSMC

2/ 💥Let’s begin with Cilia-
📌Motile cilia- generate flow of mucus & CSF
📌Non-motile/sensory cilia (inner ear, retina, & olfactory epithelium)
- plays a part in important pathways [Hedgehog, Wnt (wingless-Int-1), & PCP (planar cell polarity) signaling]
ncbi.nlm.nih.gov/pmc/articles/P…

3/Now let’s move on to💥Cystoproteins💥
📌These are proteins in cilia when mutated → cystic kidney diseases in humans, mice, or zebrafish
📌expressed in primary cilia, basal bodies or centrosomes

4/ 💥Did you know that these cystoproteins were conserved for over >1.5 billion years of evolution from the unicellular organism to vertebrates!
⚡️Fascinating isn’t it ?!⚡️

5/ 💥Cystoproteins💥
📌participate in protein-protein interaction complexes
📌share certain domains with each other
These interactions may partially explain the cause of similar phenotypes

6/ 💥Some examples of cystoprotein related diseases-

7/ Defects in cytsoproteins➡️ affects cilia formation, maintenance, or function (signaling mechanisms)➡️ impaired processing of extracellular cues➡️defects in tissue differentiation & maintenance
➡️#ciliopathies & #pleiotropy

8/ Some more examples and characteristics of 💥ciliopathies💥

ncbi.nlm.nih.gov/pmc/articles/P…
pubmed.ncbi.nlm.nih.gov/25266212/

9/ That's All Folks!
To learn more about #Nephronophthisis case-based discussion, logon to #ASPNeph October medical education #webinar Thank you @amyaimei @DrFlashHeart @RoshanPGeorgeMD @priti899 @pedsnephrology