Autoimmunity Gene Discovered

Two international research teams have discovered a novel human gene which is directly involved in a mechanism of regulation of autoimmune response. The gene is solely responsible for a systemic autoimmune disease called APECED. Autoimmune diseases comprise a variety of clinical conditions ranging from rheumatoid arthritis to diabetes. They are known to often have familial background but the genetic factors regulating autoimmune response have so far remained unclear. The new findings are expected to have considerable implications in the understanding of the mechanisms of destructive autoimmune response.

The disease studied by the two groups is called APECED for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy The disease is mostly found in certain isolated populations such as among Finns, Iranian Jews and Sardinians. Clinically, APECED comprises of a variety of autoimmune manifestations affecting mainly endocrine organs, such as parathyroid gland, thyroid gland, adrenal cortex and the gonads. The patients generate autoantibodies against the affected organs which consequently become functionless during the course of the life-long disease.
APECED is known to be an inherited condition and in 1994 the disease locus was localized to chromosome 21q22.3 by Pr Leena Peltonen's group from the National Public Health Institute (Helsinki, Finland). After that publication, Pr Peltonen's group teamed up with Dr Marie-Laure Yaspo and her group from Max Planck Institute for Molecular Genetics (Berlin, Germany) to identify the APECED gene. A second international team led by Pr Nobuyoshi Shimizu from Keio University (Tokyo, Japan), Pr Stylianos Antonarakis from University of Geneva and Pr Kai Krohn from University of Tampere (Finland) also began hunting for the APECED gene and the race was on.

The race has

Contact: Marie-Laure Yaspo

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