Artemis: a little bit is ...( Two years ago when studying children w...)

Two years ago, when studying children with severe combined immune deficiency and reduced tolerance to radiation, Jean-Pierre de Villartay and colleagues of the Hopital Necker Enfants-Malades in Paris found that the disease was caused by mutations in a particular gene. They called the gene Artemis, after the Greek patroness of children and animals. Subsequent studies showed that the gene's protein product is involved in the repair of broken DNA, therefore explaining the children's illness: the generation of the vast repertoire of immune cells (B and T cells) that protect us against pathogens involves the breakage and rejoining of DNA. Exposure to radiation also results in DNA breaks that can, to some extent, be repaired by a functioning DNA repair system.

The children from the previous study had no functional Artemis protein, which resulted in severe problems with their DNA repair system. De Villartay and co-workers now report in the February 3 issue of the Journal of Clinical Investigation that individuals who have reduced levels of functional Artemis protein (caused by so-called hypomorphic mutations in the Artemis gene) suffer from a milder form of immunodeficiency and appear prone to develop lymphomas - malignant disease that originates in B or T cells.

These findings suggest that mutations in Artemis or other DNA repair genes could be responsible for other cases of immune deficiency and/or lymphoma. In an accompanying Commentary, Vicky Brandt and David Roth (of The Skirball Institute of Biomolecular Medicine at New York University Medical School) discuss the article in the context of our knowledge of DNA repair and its role in immune cell development and as a guardian against cancer.

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Contact: Brooke Grindlinger
science_editor@the-jci.org
212-342-9006
Journal of Clinical Investigation
4-Feb-2003

Page: 1
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