期刊
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
卷 323, 期 3, 页码 C666-C677出版社
AMER PHYSIOLOGICAL SOC
DOI: 10.1152/ajpcell.00228.2022
关键词
elastin; promoter; supravalvar aortic stenosis; transcription; Williams syndrome
资金
- National Heart, Lung, and Blood Institute Grant [HL006212, T32 HL125241]
Elastin provides elasticity to tissues such as the lung, blood vessels, and skin, but the mechanisms regulating its production are not fully understood. Studying the expression of the ELN gene may help intervene in rare diseases and potentially replace age-related losses by re-initiating elastin production.
Elastin provides recoil to tissues that stretch such as the lung, blood vessels, and skin. It is deposited in a brief window starting in the prenatal period and extending to adolescence in vertebrates, and then slowly turns over. Elastin insufficiency is seen in conditions such as Williams-Beuren syndrome and elastin-related supravalvar aortic stenosis, which are associated with a range of vascular and connective tissue manifestations. Regulation of the elastin (ELN) gene occurs at multiple levels including promoter activation/inhibition, mRNA stability, interaction with microRNAs, and alternative splicing. However, these mechanisms are incompletely understood. Better understanding of the processes controlling ELN gene expression may improve medicine's ability to intervene in these rare conditions, as well as to replace age-associated losses by re-initiating elastin production. This review describes what is known about the ELN gene promoter structure, transcriptional regulation by cytokines and transcription factors, and posttranscriptional regulation via mRNA stability and micro-RNA and highlights new approaches that may influence regenerative medicine.
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