In a paper published in Science Signaling, Jacky Chung, PhD, and Barry Paw, MD, PhD, of the BWH Hematology Division, and colleagues describe the role of the amino acid transporter gene Lat3 in the development of red blood cells, with implications for the treatment of Diamond-Blackfan Anemia (DBA). A related News & Views commentary by David G. Nathan, MD, president emeritus of Dana-Farber Cancer Institute and physician-in-chief emeritus of Boston Children’s Hospital, also discusses the research team’s findings.

Amino acids are the essential nutrients needed for cells to grow and develop, but many questions remain about how they are acquired, transported and utilized by various cell types. Paw and his colleagues focused on an amino acid transporter known as LAT3, which plays a role in regulating the level of the amino acid L-leucine in red blood cells. The team found that as red blood cells matured, levels of LAT3 expression increased, as did the uptake of neutral amino acids by these cells. The team found that when LAT3 was blocked, the production of hemoglobin – a critical protein synthesized by red blood cells for oxygen transport – slowed.

The findings have implications for the treatment of a rare, congenital anemia in humans known as Diamond-Blackfan Anemia (DBA). Previous studies in model organisms have suggested that modulating a molecular pathway that leads to LAT3 may alleviate some of the symptoms of DBA. The new study offers a potential explanation as to the mechanistic reason.

“Our results…are an example of how a better understanding of amino acid metabolism can have a positive impact on human health,” the authors write. “Further work directed at unraveling amino acid metabolism may not only uncover new causes of human disease, but also lead to more mainstream use of amino acid supplementation as an effective treatment modality for a broad range of disorders.”