Title |
Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation
|
---|---|
Published in |
Cellular and Molecular Life Sciences, June 2003
|
DOI | 10.1007/s00018-003-2296-4 |
Pubmed ID | |
Authors |
S. M. Houten, J. Frenkel, H. R. Waterham |
Abstract |
Mevalonate kinase (MK) is an essential enzyme in the isoprenoid biosynthesis pathway which produces numerous biomolecules (isoprenoids) involved in a variety of cellular processes. The indispensability of MK and isoprenoid biosynthesis for human health is demonstrated by the identification of its deficiency as the biochemical and molecular cause of the inherited autoinflammatory disorders mevalonic aciduria and hyperimmunoglobulinemia D and periodic fever syndrome. Since the discovery of the genetic defect, considerable progress has been made in understanding the molecular, biochemical and immunological basis of MK deficiency. Important questions such as which specific protein(s) and/or signaling pathway(s) are affected, however, remain unanswered. Resolving the complete pathophysiology of this disorder is a major challenge, but eventually will give insight into the in vivo role of MK and isoprenoid biosynthesis in inflammation and fever. This may open novel options for antiinflammatory therapies in general. Here, we give a general introduction on isoprenoid biosynthesis, the regulation thereof and deficiencies therein. We review the molecular, biochemical and immunological aspects of MK deficiency and discuss the relations between isoprenoid biosynthesis and inflammation. Finally, we compare MK deficiency with other autoinflammatory syndromes. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 30 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 27% |
Researcher | 7 | 23% |
Professor | 3 | 10% |
Student > Master | 2 | 7% |
Student > Bachelor | 2 | 7% |
Other | 3 | 10% |
Unknown | 5 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 33% |
Agricultural and Biological Sciences | 8 | 27% |
Biochemistry, Genetics and Molecular Biology | 2 | 7% |
Chemistry | 2 | 7% |
Immunology and Microbiology | 1 | 3% |
Other | 0 | 0% |
Unknown | 7 | 23% |