Ciliopathies are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary functions. These cilia play an important role in cell signaling. For instance, they are one kind of reason for mental retardation, cystic kidney, micrognathia, and also retinal defects. Although the studies indicated that genetics is the primary cause for ciliopathy, yet the process of cilia in establishing the condition remains unclear.
To solve the mystery, researchers developed an avian ta2 mutant model for experimenting with micrognathia in humans. This is precisely known as Oral-Facial-Digital syndrome subtype 14. While doing this, they found an abnormality in the mandible (jaw bone). This was due to the uncontrolled proliferation of the osteoprogenitor cells in the skeletal system. Besides, the differentiation process from the primitive cell to a mature osteoblast cell got interrupted. As a result, the tendency to accumulate calcium to facilitate bone formation stops thereby resulting in micrognathia. The scientist also noticed excessive bone resorption as an additional cause.
The study displays the various cellular pathway which got affected in causing ciliopathic micrognathia. Different pharmacological agents tend to alter the cellular mechanism, and so we might have a chance to revert the ciliopathies in future.
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