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July 14, 2009

Researchers Find Mutations that Cause Alterations in Glycosylation

  • A group of investigators have discovered mutations that contribute to changes in the glycosylation process, which is a hallmark of various cancers. These mutations occur in a group of enzymes called GALNTs, which are required for normal glycoslylation.

    The reason behind the glycosylation defect observed in cancer has been unknown. The scientists thus studied individuals who are born with mutations that cause defects in this pathway. They appeared to develop colon cancer later in life, according to the investigators. Further research elucidated the role of mutations in GALNTs enzymes.

    “Our findings support the idea that defects in glycosylation, the process for making mucus, can contribute to tumor development,” says Sanford Markowitz, M.D., Ph.D., the Markowitz-Ingalls Professor of Cancer Genetics at Case Western Reserve University School of Medicine. “Knowing how these glycosylation enzymes malfunction and contribute to tumor formation may give us another target that can be potentially used to prevent the development of colon and other cancers.”

    The study is published in this week’s online issue of the Proceedings of the National Academy of Sciences (PNAS).