Rare Diseases Related with Lipoprotein Metabolism
| Autor: | Xuan Ye, Jingya Ye, Zhenzhen Fu, Baowen Yu, Hongwen Zhou, Yingyun Gong, Chenyan Lu, Wanzi Jiang, Qinyi Wu |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.diagnostic_test
business.industry Abetalipoproteinemia Familial hypercholesterolemia Disease medicine.disease Bioinformatics 03 medical and health sciences Hypocholesterolemia 0302 clinical medicine medicine Lipoprotein metabolism 030212 general & internal medicine Hypobetalipoproteinemia Lipid profile business Rare disease |
| Zdroj: | Advances in Experimental Medicine and Biology ISBN: 9789811560811 |
| ISSN: | 2804-2808 |
| DOI: | 10.1007/978-981-15-6082-8_11 |
| Popis: | Rare diseases are gathering increasing attention in last few years, not only for its effects on innovation scientific research, but also for its propounding influence on common diseases. One of the most famous milestones made by Michael Brown and Joseph Goldstein in metabolism field is the discovery of the defective gene in familial hypercholesterolemia, a rare human genetic disease manifested with extreme high level of serum cholesterol (Goldstein JL, Brown MS, Proc Natl Acad Sci USA 70:2804-2808, 1973; Brown MS, Dana SE, Goldstein JL, J Biol Chem 249:789-796, 1974). Follow-up work including decoding the gene function, mapping-related pathways, and screening therapeutic targets are all based on the primary finding (Goldstein JL, Brown MS Arterioscler Thromb Vasc Biol 29:431-438, 2009). A series of succession win the two brilliant scientists the 1985 Nobel Prize, and bring about statins widely used for lipid management and decreasing cardiovascular disease risks. Translating the clinical extreme phenotypes into laboratory bench work has turned out to be the first important step in the paradigm conducting translational and precise medical research. Here we review the main categories of rare disorders related with lipoprotein metabolism, aiming to strengthen the notion that human rare inheritable genetic diseases would be the window to know ourselves better, to treat someone more efficiently, and to lead a healthy life longer. Few rare diseases related with lipoprotein metabolism were clustered into six sections based on changes in lipid profile, namely, hyper- or hypocholesterolemia, hypo- or hyperalphalipoproteinemia, abetalipoproteinemia, hypobetalipoproteinemia, and sphingolipid metabolism diseases. Each section consists of a brief introduction, followed by a summary of well-known disease-causing genes in one table, and supplemented with one or two diseases as example for detailed description. Here we aimed to raise more attention on rare lipoprotein metabolism diseases, calling for more work from basic research and clinical trials. |
| Databáze: | OpenAIRE |
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