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.
CONTACT:
Jean-Pierre de Villartay
INSERM U429
Hopital Necker Enfants-Malades
149 rue de Sevres
75015 Paris
FRANCE
PHONE: 33-1-44 49-50-81
FAX: 33-1-42-73-06-40
E-mail: DEVILLAR@INFOBIOGEN.FR
View the PDF of this article at: http://www.jci.org/cgi/content/full/111/3/381
ACCOMPANYING COMMENTARY:
Artemis: guarding small children and, now, the genome
CONTACT:
David Roth
Skirball Institute of Biomolecular Medicine
NYU School of Medicine
540 First Avenue
New York, NY 10016
USA
PHONE: 212-263-0945
E-mail: roth@saturn.med.nyu.edu
Journal of Clinical Investigation