Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects.
• Mild phytosterol disruption in sitosterolemia kindred with single mutation. • A discriminative role of 7-dehydrocholesterol reductase in distinguishing hyperlipidemia and sitosterolemia kindred. • The combination of 6 phytosterols proved value than clinical lipid index in distinguishing between si...
| Publicado en: | Journal of Clinical Lipidology Vol. 19; no. 1; pp. 146 - 156 |
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| Autores principales: | , , , , , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
Elsevier B.V.
Jan2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=183600077&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 183600077 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 19332874 54Y0 jtl: Journal of Clinical Lipidology issn: 19332874 maglogo: N pubinfo: dt: Jan2025 vid: 19 iid: 1 pid: 467 pub: Elsevier B.V. place: New York, New York artinfo: ui: 183600077 183600077 183600077 10.1016/j.jacl.2024.09.002 183600077 ppf: 146 ppct: 10 formats: tig: atl: Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects. aug: au: Ren, Xuanru Zhang, Jun Wang, Luya Zhang, Yuxuan Li, Jialu Yu, Hao Zheng, Zhaohai Zhang, Yiqing Zeng, Hesong Chen, Yan Wu, Junfang affil: Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China sug: subj: Phytosterols Blood Metabolism, Inborn Errors Hyperlipidemia Mutation Human Retrospective Design Cholesterol Metabolism Biological Markers ab: • Mild phytosterol disruption in sitosterolemia kindred with single mutation. • A discriminative role of 7-dehydrocholesterol reductase in distinguishing hyperlipidemia and sitosterolemia kindred. • The combination of 6 phytosterols proved value than clinical lipid index in distinguishing between sitosterolemia, its single mutation kindred, and hyperlipidemia. Patients suffering from sitosterolemia with ABCG5/8 mutation typically present with early-onset or rapidly progressive atherosclerosis. Their kindreds with partial genetic deficiencies of ABCG5/8 are often considered healthy. However, discerning sitosterolemia from its familial kindreds and hyperlipidemia subjects has remained challenging. Here we retrospectively recruited 7 families including 8 individuals diagnosed with sitosterolemia subjects, and 14 kindreds carrying single gene mutations. Additionally, 17 individuals with hyperlipidemia and 130 healthy controls served as positive and negative controls, respectively. A total of 6 phytosterols combined with cholesterol absorption indices (including sitosterol, campesterol, stigmasterol, and cholestanol) and cholesterol synthesis markers (desmosterol and 7-dehydrocholesterol), was compared across the aforementioned 4 groups. As expected, the sitosterolemia subjects with double mutations demonstrated significantly elevated levels of sitosterol and other cholesterol absorption indices. Meanwhile, sitosterolemia kindreds with single gene mutation showed a similar pattern of activated cholesterol-absorption ability to the hyperlipidemia group, but not as high as the double mutation group. Notably, the cholesterol-synthesis enzyme 7-dehydrocholesterol reductase displayed an increase in the hyperlipidemia group but a decrease in the sitosterolemia kindred group, suggesting a potential discriminative role of 7-dehydrocholesterol in distinguishing between these 2 groups. The combination of phytosterols was more valuable than clinical lipid index for sitosterolemia diagnosis. Our study revealed mild disruptions of cholesterol absorption capacities in sitosterolemia kindreds with single mutations. Furthermore, the combination of 6 phytosterols proved effective in distinguishing between sitosterolemia, its single mutation carriers, and hyperlipidemia patients. [Display omitted] pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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