Researchers have found that forms of certain genes can influence how successful a blood and marrow transplant is, reports Roswell Park. This has important implications for understanding patient outcomes and choosing donor matches.

A blood and marrow transplant (BMT) is a treatment usually used for patients with blood cancers or another condition that reduces the number of healthy blood cells in the body, but it can also be used to treat some other diseases. There are two forms of BMT: one in which the healthy stem cells comes from the patient themselves, and one involving stem cells taken from a donor. This second form of BMT works by transferring a donor’s healthy stem cells into the patient, usually using an intravenous needle (IV). The newly introduced healthy stem cells should then begin to grow and produce healthy red and white blood cells, and platelets. Donors are usually selected based on how good of a biological match they are to the patient, although recent improvements to the technology mean that perfect donors are no longer required.

In the recent study, researchers from Ohio State University and the Roswell Park Comprehensive Cancer Centre studied the genes involved in producing proteins in approximately 2,500 acute leukaemia patients and their unrelated marrow or blood donors. From this they found two areas of the genome that can influence the success of BMT.

The first finding was that when the patients and donors had the same version of the TEX38 genes then mortality rates were decreased. This effect was larger if either the donor or recipient was a woman. This is suspected to be because the particular antigen produced by the TEX38 genes binds to molecules involved in the immune response, and the strength of the bond is related to the form of TEX38 that a person has. These molecules involved in the immune response have been shown to affect the outcome of BMT. This might be the link that allows TEX38 to influence BMT success.

The second finding of the study was that patients who had a rare form of the gene NT5E had a decreased risk of death from leukaemia following BMT. This is thought to be because the rare form of the NT5E gene produces less enzyme activity. This may be helpful in patients with leukaemia, because pre-clinical studies have found that blocking the NT5E genes to prevent them from producing their specific enzyme can slow tumour growths.

These findings shed new light on the role of gene variants in BMT. It may be possible to use this information to give patients more accurate predictions about the effectiveness of their BMT. However, because there are very few other studies like this one, more research is needed to confirm these findings before doctors can use them.

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