Familial combined hyperlipidemia
| Autor: | Martijn C. G. J. Brouwers, Marleen M.J. van Greevenbroek, Jacqueline de Graaf, Anton F. H. Stalenhoef |
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| Přispěvatelé: | Interne Geneeskunde, MUMC+: MA Endocrinologie (9), RS: CARIM - R3 - Vascular biology |
| Rok vydání: | 2014 |
| Předmět: |
Endocrinology
Diabetes and Metabolism Systems biology Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] Hyperlipidemia Familial Combined Biology comorbidities Bioinformatics Mitochondrial Membrane Transport Proteins cause Genetic linkage Hyperlipidemia Adipocytes Genetics medicine Humans Molecular Biology Exome sequencing Nutrition and Dietetics treatment Liver cell PCSK9 Serine Endopeptidases Cell Biology familial combined hyperlipidemia medicine.disease Proprotein convertase Gene Expression Regulation Liver Proprotein Convertases Proprotein Convertase 9 Cardiology and Cardiovascular Medicine Dyslipidemia |
| Zdroj: | Current Opinion in Lipidology, 25(3), 176-182. LIPPINCOTT WILLIAMS & WILKINS Current Opinion in Lipidology, 25, 3, pp. 176-82 Current Opinion in Lipidology, 25, 176-82 |
| ISSN: | 0957-9672 |
| Popis: | Item does not contain fulltext PURPOSE OF REVIEW: This review presents recent basic and clinical developments in familial combined hyperlipidemia (FCHL). RECENT FINDINGS: A variety of experiments have contributed to the elucidation of this complex disease. They consist of dynamic and gene expression studies in adipocytes, confirming the role of dysfunctional adipose tissue in the pathogenesis of FCHL and identifying potential new pathways, such as complement activation. Whole exome sequencing and classical linkage studies in FCHL pedigrees, some conducted with new traits (e.g. plasma proprotein convertase subtilisin/kexin type 9 [PCSK9] and phospholipid transfer protein activity), have revealed new genes of interest, among which SLC25A40 and LASS4. Finally, gene expression studies in liver biopsies and liver cell culture experiments have gained further insight in the role of upstream stimulatory factor 1, one of the most replicated genes in FCHL, in its pathogenesis.On the basis of these observations and recent phase II clinical trials, PCSK9 antagonizing is the most promising lipid-lowering therapy to be added to our current arsenal of statins and fibrates in FCHL treatment. SUMMARY: Ongoing basic research provides a steady growth in our knowledge on the genes that are involved in FCHL as well as their metabolic function(s). This field of research may be enhanced when data are expanded and integrated for systems biology approaches. Our growing insights in the cause of FCHL allow for better, targeted treatment of dyslipidemia and prevention of cardiovascular complications. |
| Databáze: | OpenAIRE |
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