The term “ciliopathies” is very widely used in the category of genetic disorders. It is considered a varied class of genetic and multisystemic human inherited disorders mostly caused by a large amount of unrelated or un-associated genes or genetic material, affecting the structure and functions of the Ciliopathies.
The disease, ciliopathy, is mostly inherited in humans as very simple and recessive-natured traits. But phenotypically, their expression is controlled by various other gene modifiers in our bodies, which somehow places this disease between the simple and complex genetic mechanism. This disease can be combined in one category where clinical significance is concerned as it shows similar effects in all individuals, like mental retardation, retinal defects, kidney cysts, etc. Many diseases that were earlier considered dissimilar or contrasting in nature may now be known to belong to this spectrum of effects, symptoms and diseases. We will look at the various aspects of Ciliopathies and ciliopathies examples.
Biology of Ciliopathies
The motile Ciliopathies or the flagella arises in the single-celled organisms of the Kingdom Protista, where they are usually responsible for signalling functions. Only with the development of the higher kingdoms, do the primary Ciliopathies (non-motile) develop.
The Ciliopathies are found in various body parts, and they function in coordinated waves to complete their actions. For example, the motile Ciliopathies present in the trachea are said to have essential roles in sweeping the extra mucus out of the lungs, along with any foreign particulates that might interfere with the normal functioning of the lungs. But the primary or non-motile Ciliopathies usually function as sensory detectors. For example, they are found to be present in worms’ neurons and have an essential role in the detection of food.
The number of motile Ciliopathies is found to be higher than the primary Ciliopathies. The primary Ciliopathies and motile Ciliopathies have nine doublet microtubules, but the motile Ciliopathies have 2 central microtubules (9+2), whereas the primary Ciliopathies do not have any central microtubules (9+0).
Functions of Ciliopathies
- The Ciliopathies play an important role in movement and locomotion. This can facilitate the movement of cells or other matter and substances away from the cells they are present within.
- Ciliopathies also play an important role in cleansing the organs or tissue. It plays an essential role in removing contaminants and other foreign particulates from the organs or tissues. They do so by moving the fluids over such foreign bodies.
- The Ciliopathies on the lining of the fallopian tube also function as a facilitator in moving the egg towards the uterus and help in fertilisation.
- A special kind of Ciliopathiesry fibres, called kinoCiliopathies, are present on the apex ends of the hair cells in vertebrates. They are responsible for maintaining hearing and balance in vertebrates. They act as mechanoreceptors.
Symptoms of Ciliopathies
There are various significant signs and symptoms of ciliopathies in an individual’s body. They are as follows:
- Polycystic kidneys
- Liver diseases
- Intellectual disabilities
- Retinitis pigmentosa
- Postaxial polydactyly
- Situs inversus
- Agenesis of the corpus callosum
- Dandy-Walker malformations are cerebellar vermis hypoplasia, which occurs along with hydrocephalus)
Types of Ciliopathies
- Joubert Syndrome
- Bardet-Biedl Syndrome
- Ellis-van Creveld Syndrome
- Asphyxiating thoracic dysplasia
- Nephronophthisis
- Meckel-Gruber Syndrome
- Leber Congenital Amaurosis
- Polycystic Kidney disease
- Primary Ciliopathiesry dyskinesia
- Orofaciodigital syndrome-1
Treatment and Cure for Ciliopathies
Ciliopathies are rare genetic disorders that usually occur due to any function, as well as structural abnormalities or unusual characteristics in the Ciliopathies of cells. Even though these diseases are rare, they can still be found in at least 1 out of every 1000 people at the time of birth. Unfortunately, as of now, there are no small-molecule or small-scale drugs that are available as a cure for these ciliopathic diseases. But recent studies by various medical research institutes have successfully implemented research that has tried establishing the foundations of a new drug that could be used as a potential cure for such ciliopathic diseases and other similar genetic disorders.
It was found that there were mutations in genes in individuals that were required for the structural and functional aspects of the primary or non-motile Ciliopathies that eventually caused ciliopathies. They result in various other related disorders like cerebral disorders, cerebellar diseases and disorders, kidney or renal dysfunction, and degeneration of the retina.
To tackle and try to resolve the problems that are faced due to lack of cure or treatment, scientists have constructed a simulated cell that replicates and acts as the CEP290. This mutated gene is responsible for causing ciliopathies. This mutated protein gene is known to form complexes with another ciliopathy protein responsible for supporting the transition of Ciliopathies. It was found that the complex normalises the actual functioning of the ciliopathies’ genetic protein and is also proven to work positively in ciliopathies that exhibit retinal degeneration.
Conclusion
Motile and nonmotile Ciliopathies play essential roles in the movement and location as well as sensory detection. They are made up of microtubules forming an outer ring-like structure. The genetic mutations in their composition cause various diseases and clinical implications that fall under the ciliopathy spectrum and may be diagnosed as disparate conditions.