London, May 9 (ANI): Scientists have found the gene, called SLC25A38, which causes congenital sideroblastic anaemia-a rare disease mainly characterized by the presence of ringed sideroblasts in the patients' bone marrow.
The research is a Genome Canada project, which is co-directed by Dr. Mark Samuels, an investigator with the Sainte-Justine University Hospital Research Center.
The team of scientists identified three families from Canada's Maritime provinces, and all of them had a child suffering from this disease.
Although the families were not related officially, the researchers believed that it was possible to establish a genealogical link uniting them generations ago and that they exhibited what is called a founder effect.
By using new technologies developed by the Human Genome Project, the molecular analysis team succeeded in defining a genomic region, which was suspected to inhabit the gene responsible for congenital sideroblastic anaemia in these families.
Direct resequencing of the gene made it possible to identify a causal mutation in a gene to which no physiological role could have been attributed.
Later, the researchers identified 10 additional causal mutations of this gene in other unexplained cases of congenital sideroblastic anaemia, and also showed a direct role of the gene in haemoglobin synthesis in zebra fish.
This is the first disease of this type associated with the SLC25A38 gene, reports Nature magazine.
The discovery of the 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.
Generally speaking, the feat shows that even well known scientific processes, such as haemoglobin biosynthesis, still have surprises in store.
The study is published in the latest electronic edition of the journal Nature Genetics. (ANI)