A study by researchers at Children's Hospital Boston and Dana-Farber Cancer Institute says that flipping a single molecular switch can reverse illness in a model of sickle cell disease.
When turned off, the switch, a protein called BCL11A, allows the body to manufacture red blood cells with an alternate form of hemoglobin unaffected by the mutation that causes the disease.
The findings – reported online by a research team led by Stuart Orkin, MD, of the Dana-Farber/Children's Hospital Cancer Center (DF/CHCC) in the journal Science on October 13 – provide strong evidence that BCL11A could be a powerful treatment target for a significant global health problem, one that affects between 75,000 and 100,000 people in the United States alone.
"This study provides the first proof of principle that BCL11A might serve as a target for treating sickle cell disease, and related blood disorders such as the thalassemias," said Orkin, associate chief of the division of hematology/oncology at Children's Hospital Boston and chair of pediatric oncology at Dana-Farber.
First described over 100 years ago, sickle cell disease (or sickle cell anemia) is an inherited blood disease caused by a single mutation in one of the components of hemoglobin, the oxygen-carrying protein in red blood cells. The mutation reduces the protein's ability to carry oxygen, and forces the cells to curve into a distinctive crescent or sickle shape, causing them to painfully accumulate and break apart in small blood vessels.
source:-MedIndia
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