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Researchers identify the gene responsible for a rare form of congenital anemia
Date:5/8/2009

rom 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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Contact: Mlanie Dallaire
melanie.dallaire.hsj@ssss.gouv.qc.ca
514-345-7707
University of Montreal
Source:Eurekalert

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