Title |
Dysfunctional immunoproteasomes in autoinflammatory diseases
|
---|---|
Published in |
Inflammation and Regeneration, May 2016
|
DOI | 10.1186/s41232-016-0011-8 |
Pubmed ID | |
Authors |
Hideki Arimochi, Yuki Sasaki, Akiko Kitamura, Koji Yasutomo |
Abstract |
Recent progress in DNA sequencing technology has made it possible to identify specific genetic mutations in familial disorders. For example, autoinflammatory syndromes are caused by mutations in gene coding for immunoproteasomes. These diseases include Japanese autoinflammatory syndrome with lipodystrophy, Nakajo-Nishimura syndrome, joint contractures, muscular atrophy, microcytic anemia, panniculitis-associated lipodystrophy syndrome, and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. Causal mutations of these syndromes are present in gene coding for subunits of the immunoproteasome. Importantly, a genetically modified mouse that lacks the catalytic subunit of immunoproteasomes does not always develop an autoinflammatory syndrome. Analysis of causal gene mutations, assessment of patients' phenotypic changes, and appropriate animal models will be indispensable for clarifying the underlying mechanisms responsible for the development of autoinflammatory syndromes and establishing curative approaches. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Saudi Arabia | 1 | 50% |
United Kingdom | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 50% |
Science communicators (journalists, bloggers, editors) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 18 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 6 | 33% |
Other | 3 | 17% |
Professor | 2 | 11% |
Student > Ph. D. Student | 2 | 11% |
Student > Bachelor | 1 | 6% |
Other | 2 | 11% |
Unknown | 2 | 11% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 5 | 28% |
Biochemistry, Genetics and Molecular Biology | 4 | 22% |
Immunology and Microbiology | 2 | 11% |
Agricultural and Biological Sciences | 2 | 11% |
Environmental Science | 1 | 6% |
Other | 2 | 11% |
Unknown | 2 | 11% |