GvHD Study Reveals Host of Gene Mutations

May 20, 2020 | Biotechnology

Reading time: 2-3 minutes

For your weekly Bio Technology news, Lab.Equipment has handpicked this article from Genetic Engineering and Biotechnology News (GEN) for you:

Graft-versus-host disease (GvHD) is a potentially life-threatening medical condition that is common after allogeneic hematopoietic stem cell transplantation (HSCT), the only curative treatment for various types of leukemias. In GvHD, white blood cells from transplant donor recognize recipient cells as non-self and attack recipient tissues. Understanding how these donor white blood cells remain active against recipient cells can pave the way for novel treatment strategies in GvHD.

Scientists at the University of Helsinki have been investigating the role of T cell mutations in GvHD. Somatic mutations during one’s lifetime are common in cancer cells, but little is known about their existence and significance in other cells, such as cells in the body’s defense system.

In an article “Somatic mTOR mutation in clonally expanded T lymphocytes associated with chronic graft versus host disease” published in Nature Communications, the study first identified an index chronic GvHD patient with an activating somatic mutation in a gene called mTOR, which regulates cell growth and cell survival. The authors then screened an international cohort of 135 GvHD patients and 54 healthy blood donors. By using next generation sequencing, the scientists found that 2.2% of chronic GvHD patients, but none of the healthy blood donors, harbored a mutation in mTOR.

“Here we report studies of a patient with chronic GvHD (cGvHD) carrying persistent CD4+ T cell clonal expansion harboring somatic mTOR, NFKB2, and TLR2 mutations. In the screening cohort (n = 134), we detect the mTOR P2229R kinase domain mutation in two additional cGvHD patients, but not in healthy or HSCT patients without cGvHD,” write the investigators.

“Functional analyses of the mTOR mutation indicate a gain-of-function alteration and activation of both mTORC1 and mTORC2 s... Want to read more? Visit the Genetic Engineering and Biotechnology News (GEN)​ Blog.

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