Gene may open door for new sickle cell therapies

By Julie Steenhuysen

CHICAGO (Reuters) - U.S. researchers have discovered a gene switch that could lead to better treatments for sickle cell disease and thalassemia, two inherited blood disorders that affect millions of people, they said on Thursday.

Learning how to activate this switch might help doctors direct the body to make healthier blood cells — in this case, replicating conditions found in the womb.

People with these blood disorders either make too little or abnormal forms of hemoglobin, the protein in red blood cells that is vital for carrying oxygen to the body’s tissues.

A developing fetus uses one gene to make hemoglobin, but switches to another after birth, and problems with this adult gene are what lead to sickle cell disease and thalassemia.

“One of the goals for many years has been to understand this switch of hemoglobins, with the idea that if you could understand it you could reverse it or reactivate (the fetal gene),” said Dr. Stuart Orkin of Harvard Medical School in Boston, who reported his findings in the journal Science.

Orkin and colleagues said a gene called BCL11A directly affects the production of fetal hemoglobin.

“This one is a major player,” Orkin said in a telephone interview, calling BCL11A a “silencer gene” responsible for keeping fetal hemoglobin in check. “It is probably not the only player but we think it is a significant player,” he said.

Orkin said some people continue to make fetal hemoglobin after they are born, and those who do and have sickle cell disease have much milder symptoms.

In experiments on normal human cells, Orkin said his team was able to turn off the activity of this gene, and the cells produced more fetal hemoglobin.

Orkin said the finding offers hope for new therapies, including gene therapy or new drugs that could modify the effects of the BCL11A gene.

CONTROLLING THE SWITCH

“This is a little bit of a holy grail,” said Dr. Susan Shurin, deputy director of the National Heart, Lung and Blood Institute, which helped fund the research.

“Over the past 40 years people have looked really hard to understand what kinds of things control the switch from fetal to adult hemoglobin,” she said in a telephone interview.

“What this does is it opens up the potential for some highly targeted therapeutic intervention.”.

Shurin said an older drug called hydroxyurea, approved by the U.S. Food and Drug Administration in 1998, increases production of BCL11A, but not all patients benefit and it has some toxic side effects.  Continued…

Source

--------------------------------------------------------------------------------------------
Related Posts:


NEW YORK (Reuters Health) - Black churches that hold blood drives after informing parishioners about the importance of blood donations for children with sickle cell disease will get a big upsurge in first-time donors, new research shows. While the number of actual donors remains low, the developers of the Sickle Cell Sabbath Program argue that, if

Full Post: Black churches help enlist first-time blood donors
--------------------------------------------------------------------------------------------

HONG KONG (Reuters) - Doctors may soon be able to diagnose inherited diseases such as cystic fibrosis, thalassaemia and sickle cell anemia in fetuses by simply testing a blood sample taken from the mother. Until now, prenatal diagnoses of such disorders have been possible only through invasive procedures like amniocentesis, which carry a risk of fetal

Full Post: Blood tests may show inherited diseases in fetuses
--------------------------------------------------------------------------------------------

CHICAGO (Reuters) - U.S. researchers have found a way to switch on a cell-killing protein in the body, a finding that could lead to new ways to treat diseases like cancer in which cells grow out of control. The body naturally activates this protein, called BAX, to kill off unwanted or defective cells in a process

Full Post: Researchers find trigger for killer protein
--------------------------------------------------------------------------------------------

By Michael Kahn LONDON (Reuters) - British scientists have figured out why some women develop resistance to the most commonly used breast cancer drug, something that raises the risk their tumors will return, according to a study published on Wednesday. The findings could lead to new tests to determine which women are not likely to benefit from

Full Post: Scientists unravel breast cancer drug resistance
--------------------------------------------------------------------------------------------

By Michael Kahn LONDON (Reuters) - A novel drug combination using Genzyme Corp’s Mozobil shows it may be possible to spur bone marrow into releasing extra adult stem cells into the bloodstream to repair the heart and broken bones, researchers said on Thursday. The study of mice raises hope that researchers could use the same technique to

Full Post: New drug combo may boost stem cell production

Site Navigation

Most Read

Search

Contact

  • kinwrite.com@gmail.com