Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers find gene that causes leukemia in children with Down syndrome

12.08.2002


Researchers from the University of Chicago have identified a gene defect that causes the development of leukemia in children with Down syndrome. The discovery, scheduled for Advance Online Publication on Nature Genetics’s website on 12 August, could speed diagnosis and provide a new target for therapy.



Children with Down syndrome are 10 to 20 times as likely as unaffected children to develop leukemia. They most commonly develop a type known as acute megakaryoblastic leukemia (AMKL), which is extremely rare in children without Down syndrome.

"This study, for the first time, defines a part of the molecular pathway leading to acute megakaryoblastic leukemia," said John Crispino, Ph.D., assistant professor in the Ben May Institute for Cancer Research at the University of Chicago and director of the study. "Having three copies of chromosome 21 places children with Down syndrome at increased risk for leukemia, then this abnormality tips the balance toward AMKL."


"This is a rare malignancy," added co-author Michelle Le Beau, Ph.D., professor of medicine at the University, "but a great deal of what we now know about the molecular basis of cancer has come from disorders like this. Our finding pinpoints a specific pathway that leads to this kind of cancer, offers a method for rapid and precise diagnosis, and suggests more focused ways to treat this disease."

Unlike most studies, which begin with a disease then search for the genetic trigger, this one began with a suspect gene. Crispino’s laboratory had been interested in a gene called GATA1 for years because it played a role in the maturation of blood cells.

Dr. Crispino hypothesized that GATA1 might be mutated or dysregulated in leukemia. He contacted Le Beau, an expert on the genetics of leukemia. After they identified a patient with Down syndrome who had a mutation in GATA1 and had acute megakaryoblastic leukemia in a small pilot study they began searching for other patients with childhood leukemia and an abnormal copy of this gene.

When they looked at DNA from 75 patients with various types of myeloid leukemia and 21 healthy people, they found that six out of six patients with Down syndrome and acute megakaryoblastic leukemia had an alteration in GATA1. None of the other patients surveyed had an abnormal version of this gene.

GATA1 is a transcription factor; it controls the expression of other genes. It normally functions to regulate genes that control the production of red blood cells and platelets, which enable the blood to carry oxygen and to clot. Previous studies in mice had shown that the loss of GATA1 caused the cells that give rise to platelets to proliferate excessively.

The abnormal GATA1 gene, found in the leukemia patients, produces a protein with a piece missing. The incomplete protein appears to be far less effective in regulating target genes, resulting in an outcome that is similar to having no GATA1 protein at all.

"GATA1 is just part of the story," said Crispino, "but it is a crucial early step that should lead us to the rest of the pathway." The authors suspect that it requires several gene abnormalities working in tandem to cause full-fledged acute megakaryoblastic leukemia and they are searching for the other genes that combine with GATA1 to trigger this disease.


Funding for this study was provided by the Burroughs Wellcome Foundation, the Aplastic Anemia and MDS International Foundation, the Cancer Research Foundation and the Picower Foundation. Additional authors include Joshua Wechsler, Marianne Greene and John Anastasi of the University of Chicago; Michael McDevitt of Johns Hopkins University; and Judith Karp of the University of Maryland.

John Easton | EurekAlert!

More articles from Health and Medicine:

nachricht 3D images of cancer cells in the body: Medical physicists from Halle present new method
16.05.2018 | Martin-Luther-Universität Halle-Wittenberg

nachricht Better equipped in the fight against lung cancer
16.05.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Designer cells: artificial enzyme can activate a gene switch

22.05.2018 | Life Sciences

PR of MCC: Carbon removal from atmosphere unavoidable for 1.5 degree target

22.05.2018 | Earth Sciences

Achema 2018: New camera system monitors distillation and helps save energy

22.05.2018 | Trade Fair News

VideoLinks
Science & Research
Overview of more VideoLinks >>>