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Inherited DNA change explains overactive leukemia gene
Date:5/25/2012

and malignant blood cells. The researchers showed that patients with high levels of RUNX1 protein also had high levels of BAALC gene expression, while those with low RUNX1 protein had low BAALC gene expression.

For this study, de la Chapelle and his colleagues used DNA sequencing to examine the genomic region of BAALC in 253 patients with cytogentically normal AML (CN-AML) treated in Cancer and Leukemia Group B clinical trials. The analysis revealed nine SNPs of interest, but the researchers focused only on one called rs62527607[T] which creates a RUNX1 binding site in the BAALC promoter region.

The researchers validated the findings in 105 CN-AML patients enrolled in the German-Austrian AML Study Group trials for adult patients. The validation group findings supported the association of high BAALC expression with the SNP, and high RUNX1 expression with high BAALC expression.

"We doubt that this SNP is entirely responsible for BAALC overexpression, but we do believe it is a major contributor to the overactivity," de la Chapelle says.
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Contact: Darrell E. Ward
Darrell.Ward@osumc.edu
614-293-3737
Ohio State University Medical Center
Source:Eurekalert

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