‘Clogged pipeline’ may explain Down syndrome leukemia

by Josh Barney-Virginia, University of Virginia from Futurity:
New insight into a mysterious form of leukemia that can appear and then disappear in children with Down syndrome could have implications for other forms of leukemia and even other diseases.
Researchers have linked a mutation causing Down syndrome-associated leukemias to abnormalities in cells that produce platelets, called megakaryocytes.
Essentially, this mutation is interfering with an enzyme, Calpain 2, that acts as an initial trigger for a chain of reactions that determines size and shape of megakaryocytes. This interference causes the normal process of cellular enlargement and platelet production to get hung up.
“It’s like there’s a long pipeline and there’s a clog,” says Adam N. Goldfarb of the department of pathology at the University of Virginia. “We think it’s this pipeline that’s getting clogged in this disease and other diseases.”
As reported in the journal Developmental Cell, leukemia cells with the mutation display a critical deficiency of Calpain 2, and the enzyme’s absence leaves them stuck in an early stage of development, contributing to the development of Down syndrome-associated leukemias, Goldfarb says. And that could be the case in other forms of leukemia as well.
“These leukemias in Down syndrome aren’t that common, but this finding has implications for other leukemias in that it lets us understand basic growth and development patterns,” Goldfarb says.

Jumping for Jacob Contributes $30,000 Childhood Cancer Research Grant

from NeighborNewspapers.com:

Rally Foundation, a national non-profit organization committed to research to fight childhood cancer, announced it will be distributing $30,000 to fund research at Northwestern University-Chicago Campus on the biology and targeted therapy of childhood Acute Lymphoblastic Leukemia (ALL) in patients with Down Syndrome.


Funding for this grant was made possible through Jumping for Jacob, a family fundraising event honoring 11-year-old Jacob Moore who has Down syndrome and is currently battling leukemia.

Diagnosed in November 2009, Moore is a Rally Kid, a child who has fought or is fighting cancer, and is currently in the middle of his three and a half year treatment plan. Jacob lives in Alpharetta with his Mom and Dad and brother, Jared.


“Through the grant provided by Rally Foundation in conjunction with fundraising efforts from Jumping for Jacob, we are taking one step closer to understanding the link between Down Syndrome and ALL,“ said Dr. John Crispino, the Rally-funded researcher at Northwestern University. “This research will lead to continued breakthroughs in successfully treating the disease in patients with Down syndrome and allow us to learn more about the varying effects of current treatments.”

Rally’s grant at Northwestern is a part of the collective $700,000 in childhood cancer research grants made nationally this year. In its first five years, Rally has given more than $2.2 million in grants across the country in its efforts to find better treatments with fewer long-term side effects. These grants support more than 50 projects nationwide that include young investigators awards, research nurses and fellowships. For every dollar Rally receives, 93 cents goes to support its mission, according to independently audited financials.

“Communities and families, such as Jacob’s, across the country have joined Rally in supporting the need for more research,” said Dean Crowe, Founder and CEO of Rally. “It is our hope that, one day soon, new and more effective research will eliminate all childhood cancer.”