Down syndrome gene may provide clue in cancer fight

The one thing necessary to all life on earth is the division of cells. When the process starts, life begins. When it stops altogether, death. The human body is composed of trillions of them, providing structure, taking in nutrients from food, converting those nutrients into energy, and carrying out specialized functions.

Cells also contain the body's hereditary material and can make copies of themselves, usually in a seven-year cycle with slightly damaged replacements that collectively show up on the outside as deepening skin wrinkles and graying hair.

It's an intricately manifolding process that can go awry, and in it's most mutated form shows up as cancer. Those cells are in every body, and usually disposed of naturally. When they get multiplying like gangbusters and refusing to die off — refusing to commit suicide, actually — they can start collecting into groups. Those groups can form lumps known infamously as malignant tumors.

Science has managed to gather a lot of knowledge about cancers. But it remains mostly a big, tricky mystery akin to putting a 3-D dining room table-sized jigsaw puzzle together with no picture.

So when someone finds a pattern, it's a big deal, no matter how narrow the scope.

Julie R. Korenberg, who is a researcher with an amalgam of specialties — a Ph.D., an MD, a pediatric geneticist, a staff member of The Brain Institute at the University of Utah and a USTAR professor. She is a well-respected expert on Down syndrome, the most common genetic cause of mental retardation, occurring in one out of 700 live births.

It's that expertise that has allowed her to focus on the unique genetic quality of the 350,000 Americans with the genetic defect technically known as Trisomy 21 — their risk of getting cancer is only 10 percent of general population's risk.

Her latest research results reported in the journal Nature, help answer why. And better yet, is promising news for cancer research in general.

For readers who prefer scientific terms, the journal puts it this way: The incidence of many cancer types is significantly reduced in individuals with Down syndrome 1, 2, 3, 4, and it is thought that this broad cancer protection is conferred by the increased expression of one or more of the 231 supernumerary genes on the extra copy of chromosome 21.

What that means, Korenberg said, is that there is something going on with the extra chromosomes in a Down person that protects the entire genome sequence that doesn't allow cancer cells to form.

"It's an important scientific study," she said. "It's not a cure, but it's a significant step toward one because it shows that the extra copies of a gene in people with Down's helps keep tumors from feeding and growing."