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Positional cloning of the APECED gene
K Nagamine1, P Peterson, H S Scott
1Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.
Nature Genetics
|December 17, 1997
Summary
Researchers identified the AIRE gene responsible for Autoimmune Polyglandular Syndrome Type I (APS 1), also known as APECED. This discovery aids in diagnosing and treating this rare autoimmune disorder.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Autoimmune Polyglandular Syndrome Type I (APS 1), or APECED, is an autosomal-recessive disorder.
- Previous studies localized the causative gene to human chromosome 21q22.3.
Purpose of the Study:
- To identify the specific gene responsible for APECED.
- To understand the genetic basis of this autoimmune disorder.
Main Methods:
- Linkage studies to map the gene region on chromosome 21q22.3.
- Isolation and characterization of a novel gene, AIRE (autoimmune regulator).
- Mutation analysis in APECED patients.
Main Results:
- A novel gene, AIRE, encoding a putative transcription factor, was identified.
- Two disease-causing mutations (R257X and K83E) were found in the AIRE gene in APECED patients.
- The R257X mutation is prevalent in Finnish APECED patients.
Conclusions:
- The AIRE gene is responsible for the pathogenesis of APECED.
- Identification of the AIRE gene facilitates genetic diagnosis and potential treatment strategies.
- This finding enhances understanding of autoimmune disease mechanisms.