The discovery helps explain a rare immunodeficiency syndrome
IRCM researchers led by Javier M. Di Noia, PhD (Adjunct Professor in the Department of Medicine (Division of Experimental Medicine) at McGill University), uncovered a new function of AID, a crucial enzyme for the immune response. The discovery, recently published by the scientific journal Proceedings of the National Academy of Sciences (PNAS), helps explain a rare genetic disorder that causes an immunodeficiency syndrome.
The Montréal research team studies the enzyme AID, or activation-induced deaminase, that can be found in B lymphocytes (the group of white blood cells whose main function is to produce antibodies to fight against infections). AID creates deliberate mutations in DNA to modify the antibody genes, which is necessary to produce an appropriate immune response. However, inappropriate functioning of AID can also have harmful effects and lead to certain oncogenic (cancer-causing) mutations.
“One of AID’s roles is to trigger antibody class switching, a critical mechanism for immune responses,” explains Dr. Di Noia, Director of the Mechanisms of Genetic Diversity research unit at the IRCM. “Class switching is the process that allows a B cell to produce different classes of antibodies, so the immune system can respond to and eliminate a wide variety of antigens.”
AID initiates a mechanism whereby a break occurs in the DNA, within the antibody genes, and a segment is removed. The free ends on either side of the removed fragment must be rejoined to repair the DNA strand and, thus, produce a new class of antibody.
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March 27, 2014