| Cannot Get Enough AIRE Mark Anderson, MD, PhD and his lab at UCSF have been examining the genetic control of autoimmune diseases to better understand how the body recognizes self from non-self – and why the body attacks its own insulin-producing beta cells in type 1 diabetes. It appears that a key element to autoimmunity is AIRE, a gene that is critical to helping immune cells learn how to recognize and avoid destroying its own cells. Dr. Anderson has played a key role in figuring out how AIRE works.
AIRE is involved in the removal of self-reactive “bad” T cells, a process called negative selection. To perform this task, AIRE appears to be important in activating the production of a wide array of self-proteins. When the AIRE gene is knocked out of the thymus in mice, these bad T cells aren’t removed and will attack multiple organs such as the pancreas.
Maureen Su, MD and her colleagues in the Anderson lab recently published their research which appeared in the Journal of Clinical Investigation (JCI) as their lead cover story, Walking on AIRE. Through this research, a new mouse model has been created to help shed light on autoimmunity and AIRE. This mouse model was based on a family in Italy that had a strong history of autoimmune disease. This research helped to demonstrate that mutations in AIRE can cause common autoimmune diseases (such as thyroid disease). Furthermore, it had been previously thought that both copies of the AIRE gene had to be mutated to cause disease. This mouse model helped to demonstrate that having just one copy of an AIRE mutation could be enough to cause disease. Dr. Su and her colleagues are studying this specific human mutation to understand further how AIRE acts to promote immune tolerance.
Dr. Su graduated from Harvard Medical School and came to UCSF to complete her residency. She is currently a Pediatric Endocrine Fellow working in the Anderson lab, and a National Institute of Child Health and Human Development (NICHD) Fellow of the Pediatric Scientist Development Program. Even though we are dangerously close to being cliché, we think she is a “breath of fresh AIRE” at UCSF! | |
