New insight into Down syndrome genes could inspire treatments for solid tumors

3D medical background with DNA strand
The decreased expression of some genes in Down syndrome interferes with cell proliferation and lowers inflammation, creating a hostile environment for solid tumor growth, a new study reported. (kirstypargeter/iStock/Getty Images Plus/Getty Images)

People with the congenital disorder Down syndrome have some genes that are under-active, leading to heart problems and poor muscle development. But the decreased expression of these genes may have positive ramifications, too: It seems to lower the risk of solid tumors forming.

Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital in Chicago used skin samples from two Down syndrome patients to pinpoint the exact genes that are under-expressed and to determine how they interfere with tumor formation. They published their observations in the journal Scientific Reports.

The researchers started by using the patient skin samples to create pluripotent stem cells, which were then differentiated into endothelial cells that build blood vessels and mesodermal cells that are key to muscle development. During that process, they found more than 100 genes, many of which were significantly down-regulated.

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Those under-active genes impeded the speed and proliferation of cells, as well as lowering inflammation—in essence creating an environment that’s not conducive to tumor formation, they said. They confirmed their findings by completing genome-wide analyses on data from 11,000 Down syndrome patients.

The majority of the 20 most down-regulated genes the researchers discovered were related to myosin, a protein that’s known to be involved in cell motion, according to the study.

“Our promising preliminary data carries strong potential for ultimately developing gene-targeted therapies to inhibit solid tumor growth in the general population," said co-lead author Yekaterina Galat, a research associate at the Manne Research Institute at Lurie Children's Hospital, in a statement.

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Many research efforts aimed at curbing the growth of solid cancers are focused on altering the tumor microenvironment. For example, Sanford Burnham Prebys Medical Discovery Institute published research in June showing how targeting the proteins ERK and eIF2 alpha could slow the ability of pancreatic cancer cells to break free and spread throughout the body. Several companies have been working on ERK inhibitors, including Merck and Eli Lilly.

The next step for the Manne Research Institute team is to validate their discoveries in animal studies. They believe their findings will ultimately inspire treatments that will help patients battling cancer, as well as people born with Down syndrome.

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