Genetic Variation of PPAR and RXR in Human Disease
Call for Papers
The peroxisome proliferator-activated receptors (PPAR)-α, -β/δ, and -γ play key roles in development and homeostasis, and have become major targets for drug discovery, particularly in the fields of obesity, diabetes, and cancer. Compelling genetic evidence to support this approach comes from the study of rare heterozygous mutations in the PPARG gene, which result in familial partial lipodystrophy subtype 3 (FPLD3, MIM 604367), as well as the more common Pro12Ala polymorphism, which is associated with reduced diabetes risk. For PPARα, polymorphisms have been shown to be linked to altered lipid metabolism and (possibly) atherosclerosis, while genetic variation of the RXRγ gene may contribute to familial combined hyperlipidemia. In addition, PPARs and their obligate heterodimeric RXR partner proteins may play an important role in neoplasia, as exemplified by loss-of-function PPARγ mutations in colon cancer and recurrent chromosomal rearrangements involving the PPARG gene in follicular thyroid carcinomas. This special issue of PPAR Research will provide a detailed overview of our current knowledge regarding the role of genetic variation of PPAR/RXR in human disease.
Authors are invited to present original research articles and review articles that address all aspects related to genetic variation (polymorphisms, mutations, and genetic alterations) of PPAR and RXR. Chemistry-based, molecular, and genetic studies as well as preclinical and clinical studies will be considered. Potential topics include (but are not limited to):
- Effects of PPAR/RXR mutations/polymorphisms on receptor function
- Role of PPAR/RXR mutations and polymorphisms in metabolic disorders
- Role of genetic alterations in PPAR/RXR in cancer
- Mouse models of PPAR and RXR polymorphisms/mutations/genetic alterations
Authors should follow the PPAR Research manuscript format described at http://www.hindawi.com/journals/ppar/. Prospective authors should submit an electronic copy of their complete manuscript through the journal Manuscript Tracking System at http://mts.hindawi.com/ according to the following timetable:
| Manuscript Due | September 1, 2008 |
| First Round of Reviews | December 1, 2008 |
| Publication Date | March 1, 2009 |
Guest Editors:
- Eric Kalkhoven, Departments of Metabolic and Endocrine Diseases and Pediatric Immunology, UMC Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands
- Mark Gurnell, Metabolic Research Laboratories, Addenbrooke's Hospital, University of Cambridge, Cambridge, Cambridgeshire CB2 0QQ, UK