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Sequence No.

BIO-871

Mention the cause of ADA deficiency in human. How has genetical engineering helped patient suffering from it?

 

Answer:

Cause of ADA deficiency:
ADA deficiency is caused by the mutation or malfunctioning of ADA gene. Which is responsible for making an enzyme that found in white blood cells (lymphocytes). This enzyme is very crucial for the well functioning of immune system. ADA deficiency affects lymphocytes, lungs, kidney and also affect the skin. 

The first approved gene therapy given to 4 years old girl a regular injection of ADA enzyme was performed every two months. Some children with ADA deficiency cured with bone marrow transplantation and other treated with injection, enzyme replacement therapy, which active ADA was injected to patient. Roth these procedure are temperary and not fully successed permanent gene therapy can be done by replacement of ADA gene from bone marrow cells of early embryonic stages.

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