Cause Of Achondroplasia

Cause Of Achondroplasia

Achondroplasia has two causes possibly. The first one is genetic, and the other one is due to genetic mutation within the gene.

It means that it can even without the parents having it. If one of the parents has it, the children have 50 percent chance of getting it. If both the parents have it, every child out four will have the chance to inherit it.The gene will be passed from one of the parents or from both the parents, who have it, to the child. The particular gene is called the FGFR3. The gene will be passed over to the child, and the child invariably will be afflicted with the disease.

Surprisingly 80 percent cases of achondroplasia are non inherited ones. This is mainly due to the mutations in the fibroblast growth factor receptor 3 (FGFR3) genes. It is located in the chromosome. It is believed the mutations cause the receptor to be over active. It is seen in the bone growth.

The FGFR3 gene makes the protein, and it is a receptor. It regulates or limits the body growth by limiting bone formation. Therefore, it has excessively elongated bones and also very elongated vertebrae. So, it has a very long tail. This is called ossification. It is more prominent in the longer bones.

It is proved in the knockout mouse models in which the receptor is absent. Hence, there is no limitation of its bone growth. Therefore, the mouse has excessive bone growth and elongated vertebrae. Hence, it has long tail. Achondroplastic mouse models are useful tools in developing potential treatments.

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Cause Of Achondroplasia