Concept

Ciliopathy

A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it is possible for ciliopathies to be associated with unexpected proteins such as XPNPEP3, which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins. Significant advances in understanding the importance of cilia were made in the mid-1990s. However, the physiological role that this organelle plays in most tissues remains elusive. Additional studies of how ciliary dysfunction can lead to such severe disease and developmental pathologies is still a subject of current research. A wide variety of symptoms are potential clinical features of ciliopathy. The signs most exclusive to a ciliopathy, in descending order of exclusivity, are: Dandy–Walker malformation (cerebellar vermis hypoplasia, usually with hydrocephalus) Agenesis of the corpus callosum Situs inversus Posterior encephalocele Polycystic kidneys Postaxial polydactyly Liver disease Retinitis pigmentosa Intellectual disability A case with polycystic ovary syndrome, multiple subcutaneous cysts, renal function impairment, Caroli disease and liver cirrhosis due to ciliopathy has been described.

About this result
This page is automatically generated and may contain information that is not correct, complete, up-to-date, or relevant to your search query. The same applies to every other page on this website. Please make sure to verify the information with EPFL's official sources.
Related courses (1)
BIO-611: Practical - Constam Lab
During development, cell fates are governed by multiple microenvironmental cues and their integration by specific signal transduction pathways. This course focuses on imaging of mechanosensory cilia o
Related lectures (6)
Embryonic Induction: Gastrulation and Patterning
Explores embryonic induction, gastrulation, germ layer patterning, and signal transduction pathways in development.
TRP Channels: Sensory Perception
Explores TRP channels' role in sensory perception, focusing on their activation by various stimuli and their implications in disease pathogenesis.
Embryonic Induction: Spemann and Mangold
Explores embryonic induction through Spemann and Mangold's experiments, highlighting organizer roles, neural plate formation, and Activin as a morphogen.
Show more
Related publications (28)

New roles of Bicc1 in cilia formation, cell adhesion, and in adult kidneys.

Céline Gagnieux

Bicaudal-C1 (Bicc1), an RNA-Binding protein, is a ciliopathy-associated protein. In development, Bicc1 is necessary for left-right axis specification. Loss of Bicc1 in mice also associates with polycystic kidney development. In human, two hereditary polycy ...
EPFL2023

Metabolism of the symbiotic jellyfish Cassiopea in a changing environment

Gaëlle Delphine Toullec

Ocean warming and other anthropogenic impacts have led to a global decline in many photosymbiotic cnidarians, most notably reef-building corals. But some species of the symbiotic and (sub-)tropical upside-down jellyfish Cassiopea are increasingly reported ...
EPFL2023

Tuning SAS-6 architecture with monobodies impairs distinct steps of centriole assembly

Georg Fantner, Georgios Hatzopoulos, Tatiana Favez, Oliver Hantschel, Virginie Hamel, Niccolo Banterle, Santiago Harald Andany

Centrioles are evolutionarily conserved multi-protein organelles essential for forming cilia and centrosomes. Centriole biogenesis begins with self-assembly of SAS-6 proteins into 9-fold symmetrical ring polymers, which then stack into a cartwheel that sca ...
NATURE RESEARCH2021
Show more
Related concepts (10)
Nephronophthisis
Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy. Its incidence has been estimated to be 0.9 cases per million people in the United States, and 1 in 50,000 births in Canada. Infantile, juvenile, and adolescent forms of nephronophthisis have been identified.
Polycystic kidney disease
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well.
Agenesis of the corpus callosum
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain, in the embryo is disrupted. The result of this is that the fibers that would otherwise form the corpus callosum are instead longitudinally oriented along the ipsilateral ventricular wall and form structures called Probst bundles.
Show more

Graph Chatbot

Chat with Graph Search

Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.

DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.