Thursday, April 6, 2017

Identification of mutation makes treatment possible

The location of a genetic mutation which leads to a disease of the immune system has been identified. The gene responsible codes for the protein ZAP70 (70 kDa), which is involved with intracellular signaling with T-cells, which help fight viruses and other invaders in the body. The hypomorphic mutation of this gene can create combined immunodeficiency and new research has lead to the creation of a molecule that blocks this mutation and allows the fully functioning expression of ZAP70. It may be possible to use this as treatment for those with this immunodeficiency or similar hypomorphic mutations. This work matters because the more we know about these slight mutations the closer a proper treatment is to being developed and utilized. Through genetics, it may be possible to save a lifetime of suffering.

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