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Biology Articles » Genetics » Clinical Genetics » Gene Responsible For Rare Form Of Congenital Anemia Discovere
May 14, 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 Université de Montréal 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
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 Université de Montréal's Department of Pathology, the research
team showed a direct role of the gene in hemoglobin synthesis in zebra
The gene identified is part of a gene family involved in the
transport of nutrients to and from the mitochondria, the power plant of
the cells. Some mutations of other members of this gene family cause
distinct genetic diseases in humans, but this is the first disease of
this type associated with the SLC25A38 gene.
The identification of the causal gene can now offer patients and
their family members direct molecular confirmation of their condition,
allowing them to know whether they are sufferers or asymptomatic
carriers of the disease. More generally, this discovery shows that even
well-known scientific processes, such as hemoglobin biosynthesis, still
have surprises in store.
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