Researchers Find Gene For Rare Anemia; Discover Surprising Function In Haemoglobin Process Along The Way

Main Category: Blood / Hematology
Also Included In: Genetics
Article Date: 06 May 2009 - 3:00 PDT

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Nature Genetics reported an important novel gene discovery by the Dalhousie University-based team of the Atlantic Medical Genetics and Genomics Initiative (AMGGI).

The gene, SLC25A38, is associated with a rare form of severe anemia called congenital sideroblastic anemia (CSA). Treatment for the life-threatening disease includes regular red blood cell transfusions, exposing patients to critical risks of iron overload.

"It's an exciting find for us," says Dr. Mark Samuels, project co-leader for AMGGI, an ambitious, multi-partner gene-discovery project managed by Genome Atlantic, and funded by Genome Canada/Genome Atlantic, Capital Health, IWK Health Centre, Dalhousie University, Nova Scotia Research Innovation Trust, Dalhousie Medical Research Fund, Nova Scotia Health Research Foundation and others as listed at http://www.amggi.ca. "It's one more piece in the puzzle for our functional understanding of the human genome."

The identification of the gene will enable CSA patients and families to determine through direct molecular confirmation whether or not they are disease carriers.

"Finally knowing what causes this disease makes us feel a little more peace," says research participant, Gisele Allain, mother of Samuel, who suffers from CSA. "And it feels good to know we were part of something that can help others in the future."

CSA has previously been associated with a specific gene. But many unexplained cases suggested that other genes were also responsible. After clinicians at the IWK Health Centre (IWK) identified three affected families from the Maritime provinces, AMGGI geneticists conducted the genetic analysis, eventually identifying SLC25A38 as the causal gene. By studying other unexplained cases in the United States, AMGGI researchers confirmed that this gene was responsible for many of them.

The gene also unveils a previously unknown process in the way the body manufactures haemoglobin, the crucial oxygen-carrying molecule at the heart of red blood cells.

"Shedding new light on an integral function of the body, plus finding a cause for a rare disease is very significant," says Dr. Conrad Fernandez, an associate professor of pediatrics at Dalhousie Medical School and IWK haematologist involved in the discovery. "We are very grateful to the participating families who helped us reach this point."

The gene is one of eight discoveries made to date through the AMGGI project. Among them, a gene related to sudden cardiac death and one linked to an eye disease that is showing potential to unlock the mystery of lipid management.

Sue Coueslan, Director of Communications and Government Relations, Genome Atlantic

Source
Genome Atlantic