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Ciliopathy : Introduction , Symptoms



A ciliopathy is any genetic disease that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the method of development, so abnormal ciliary function while an embryo is developing can cause a group of malformations which will occur no matter the actual genetic problem. The similarity of the clinical features of those developmental disorders means they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the particular genetic cause, it's clustering of a group of characteristic physiological features which define whether a syndrome may be a ciliopathy.

Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it's 
possible for ciliopathies to be related to unexpected proteins, 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 cause 
such severe disease and developmental pathologies remains a topic of current research.


Signs and symptoms

A wide sort 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 thanks to 
ciliopathy has been described.

Phenotypes sometimes associated with ciliopathies can include:


·         Anencephaly

·         Breathing abnormalities

·         Cerebellar vermis hypoplasia

·         Diabetes

·         Exencephaly

·         Eye movement abnormalities

·         Hydrocephalus

·         Hypoplasia of the corpus callosum

·         Hypotonia

·         Infertility

·         Cognitive impairment/defects

·         Obesity

·         Other polydactyly

·         espiratory dysfunction

·         Renal cystic disease

·         Retinal degeneration

·         Sensorineural deafness

·         Spina bifida



"In effect, the [motile cilium] may be a 
nanomachine composed of perhaps over 600 proteins in molecular complexes, many of which also function independently as nanomachines." Cilia "function as mechano- or chemosensors and as a cellular global positioning system to detect changes within the surrounding environment." for instance , ciliary signaling plays a task within the initiation of cellular replacement after cell damage.

In addition to the present sensory role mediating specific signaling cues, cilia play "a secretory role during which a soluble protein is released to possess an impact downstream of the fluid flow" in epithelial cells, and may in fact mediate fluid flow directly within the case of motile cilia. Primary cilia within the retina play a task in transferring nourishment to the non-vascularized rod and cone cells from the vascularized cells several micrometres behind the surface of the retina.

Signal transduction pathways involved include the Hedgehog signaling pathway and the Want signaling pathway.

Dysfunctional cilia can lead to:


·         Chemosensation abnormalities, typically via ciliated epithelial cellular dysfunction.

·         Defective thermosensation or mechanosensation, often via ciliated epithelial cellular dysfunction.

·         Cellular motility dysfunction

·         Issues with displacement of extracellular fluid

·         Paracrine signal transduction abnormalities


In organisms of normal health, cilia are critical for:


·         Development

·         Homeostasis

·         reproduction



Notice: Please consult your doctor before following any instruction of

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