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Genetics of Proteasome Diseases
Author
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-30, 30 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-12-30
Country of Publication
Egypt
No. of Pages
30
Main Subjects
Natural & Life Sciences (Multidisciplinary)
Diseases
Abstract EN
The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins.
Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer.
One polymorphism in the proteasome gene PSMA6 (−8C/G) is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease.
One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation.
It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M.
tuberculosis infection.
This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms.
Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future.
While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit.
American Psychological Association (APA)
Gomes, Aldrin V.. 2013. Genetics of Proteasome Diseases. Scientifica،Vol. 2013, no. 2013, pp.1-30.
https://search.emarefa.net/detail/BIM-487154
Modern Language Association (MLA)
Gomes, Aldrin V.. Genetics of Proteasome Diseases. Scientifica No. 2013 (2013), pp.1-30.
https://search.emarefa.net/detail/BIM-487154
American Medical Association (AMA)
Gomes, Aldrin V.. Genetics of Proteasome Diseases. Scientifica. 2013. Vol. 2013, no. 2013, pp.1-30.
https://search.emarefa.net/detail/BIM-487154
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-487154