Researchers identify the gene responsible for a rare form of congeni...( This press release is available in A...),Health

This press release is available in French.

Montreal, May 8, 2009 The latest electronic edition of the journal Nature Genetics reports the discovery of a new gene responsible for congenital sideroblastic anemia, a rare disease, mainly characterized by the presence of ringed sideroblasts in the patients' bone marrow. This Genome Canada project, co-directed by Dr. Mark Samuels, an investigator with the Sainte-Justine University Hospital Research Center and a professor at the Universit de Montral Department of Medicine, is being conducted under the Atlantic Medical Genetics and Genomics Initiative (AMGGI).

The clinical research team identified three families from Canada's Maritime provinces, each with a child suffering from this disease. Even though these families were not related officially, it seemed very likely that it was possible to establish a genealogical link uniting them generations ago and that they exhibited what is called a founder effect.

Thanks to the new technologies developed by the Human Genome Project, the AMGGI's molecular analysis team succeeded in delimiting a genomic region likely to contain the gene responsible for congenital sideroblastic anemia in these families.

The direct resequencing of this gene made it possible to identify a causal mutation in a gene to which no physiological role could have been attributed. Subsequently, in collaboration with researchers in the United States, the team identified 10 additional causal mutations of this gene in other unexplained cases of congenital sideroblastic anemia. In collaboration with the laboratory of Dr. Louis Saint-Amant of the Universit de Montral's Department of Pathology, the research team showed a direct role of the gene in hemoglobin synthesis in zebra fish.

The gene identified is part of a gene family involved in the transport of nutrients to and f
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