Study reveals new gene, key to anemia

Professor of microbiology and biochemistry & molecular biology Harry Dailey is an author of a newly published study that reveals a new gene discovery in the quest to better understand human anemias:

Scientists at the University of Georgia, Harvard Medical School and the University of Utah have discovered a new gene that regulates heme synthesis in red blood cell formation. Heme is the deep-red, iron-containing component of hemoglobin, the protein in red blood cells responsible for transporting oxygen in the blood.

 

The study was published online Nov. 7 and will be in the Nov. 22 print edition of the journal Nature. The findings promise to advance the biomedical community's understanding and treatment of human anemias and mitochondrial diseases, both known and unknown.

The gene-known as mitochondrial ATPase inhibitory factor-1 gene or Atpif1-was uncovered from a chemical mutagenesis screen of zebrafish, an organism which shares many of the same genes that regulate blood development in humans.

 

"With zebrafish, we are able to accelerate natural disease processes and screen for many more mutations in blood than we could ever see in random circumstance of human patients," said study senior co-author Dr. Barry Paw, a hematologist and associate professor of medicine at Harvard Medical School.

"In our case, we were looking for mutants that were bloodless, presumably because whatever gene that was inactivated by the random mutation must be critical for blood development, if one of these embryos were bloodless."

Image: Human blood from a case of iron deficiency anemia (Giemsa stain), courtesy of a Creative Commons Attribition-Share Alike license.