Fifteen percent of the leukemia patients in this study have a mutation in their SF3B1 gene which is a component of the spliceosome, a pre-mRNA splicing factor. Because of this mutation, in this study, there has also been found altered splicing in the collected tumor samples with the mutated spliceosome (pg. 2502). These findings were interesting to me as I was working on my research.
Clearly, a mutated spliceosome is not the characteristic standard for leukemia, since it only appeared in 15% of patients. But considering the previous article I've posted about the aberrant splicing leading to overexpression of a certain protein (OPN-c) led to further progression (in this case, metastasis) of cancer (gastric). So, seeing this NEJM article about the mutated spliceosome makes me wonder what possible causes does the altered splicing have on leukemia. Does this process only further progress leukemia?
http://www.nejm.org/doi/pdf/10.1056/NEJMoa1109016
Perhaps, researchers need to do further research into what kinds of proteins do the different splicing isoforms within this gene express.
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