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Researchers Discover Gene Mutation In Blood Disorder

Update Date: Sep 24, 2014 08:41 AM EDT

Researchers have identified a gene mutation that causes aplastic anemia - a serious blood disorder in which bone marrow fails to produce normal amounts of blood cells, according to a new study.

The study involved three generations of the family which had blood disorders. Researchers discovered a defect in a gene that regulates telomeres, chromosomal structures with crucial roles in normal cell function.

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

"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.

In prior, studies had identified nine other genes that played a role in bone marrow failure disorders. The current study adds ACD to the list. 

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

The study has been published in the journal Blood

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