Newly Discovered Gene Mutation Responsible For Aplastic Anemia

Australian scientists have identified a gene mutation that causes aplastic anemia--a serious blood disorder in which the bone marrow fails to produce normal amounts of blood cells.

"Identifying this causal defect may help suggest future molecular-based treatments that bypass the gene defect and restore blood cell production," said study author Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia (CHOP), in a news release. 

Researchers looked at three generations of the family which had blood disorders, identifying a blood defect in a gene that regulates telomeres, otherwise known as chromosomal structures with crucial roles in normal cell function.

"We're thrilled by this discovery which has advanced our understanding of certain gene mutations and the causal relationship to specific diseases," said study co-leader Tracy Bryan, Ph.D., Unit Head of the Cell Biology Unit at the Children's Medical Research Institute in Westmead, New South Wales, Australia.

Previous studies have identified nine other genes that played a role in bone marrow failure disorders via current studies on the ACD list.

"This improved understanding of the underlying molecular mechanisms may suggest new approaches to treating disorders such as aplastic anemia," Hakonarson added. "For instance, investigators may identify other avenues for recruiting telomerase to telomeres to restore its protective function."

More information regarding the findings can be seen via the journal Blood.