Scientists discover how gene mutation triggers immune disease
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IMAGE: This confocal microscopic image of a healthy mouse T cell uses color florescence to illustrate how the protein Gimap5 (upper-right faint green area) and the enzyme GSK3 (red) overlap in… view more 

Credit: Cincinnati Children’s

CINCINNATI – Scientists discovered how a gene mutation affects T cell function to promote immune disorders and then tested a treatment based on the discovery–successfully fixing donated immune cells from a 16-year-old boy with an abnormally low level of white blood cells called lymphopenia.

Cincinnati Children’s researchers report their findings Jan. 30 in Nature Communications. The discovery centers on mutation of the gene Gimap5, which is important to the healthy formation and function of CD4+ T cells, one of the immune system’s super soldiers against infection and disease.

The protein associated with the Gimap5 gene (also Gimap5), is important because it regulates a protein that inactivates an enzyme called GSK3, researchers said. If GSK3 isn’t inactivated it causes DNA damage in T cells that are expanding, causing the cells to not survive or function correctly. In mice and human blood cells, the researchers tested drugs that inhibit GSK3, improving immune system function in mice and restoring normal T cell function in the human

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