PDF(Pubmed)
Abstract：
Elastic fibers are extracellular macromolecules that provide resilience and elastic recoil to elastic tissues and organs in vertebrates. They are composed of an elastin core surrounded by a mantle of fibrillin-rich microfibrils and are essentially produced during a relatively short period around birth in mammals. Thus, elastic fibers have to resist many physical, chemical, and enzymatic constraints occurring throughout their lives, and their high stability can be attributed to the elastin protein. Various pathologies, called elastinopathies, are linked to an elastin deficiency, such as non-syndromic supravalvular aortic stenosis (SVAS), Williams-Beuren syndrome (WBS), and autosomal dominant cutis laxa (ADCL). To understand these diseases, as well as the aging process related to elastic fiber degradation, and to test potential therapeutic molecules in order to compensate for elastin impairments, different animal models have been proposed. Considering the many advantages of using zebrafish, we here characterize a zebrafish mutant for the elastin a paralog (elnasa12235) with a specific focus on the cardiovascular system and highlight premature heart valve defects at the adult stage.
摘要：
弹性纤维是细胞外大分子，为脊椎动物的弹性组织和器官提供弹性和弹性回缩。它们由弹性蛋白核心组成，该弹性蛋白核心被富含原纤维蛋白的微原纤维的外套包围，并且基本上是在哺乳动物出生前后相对较短的时间内产生的。因此，弹性纤维必须抵抗许多物理，化学,以及在他们一生中发生的酶限制，并且它们的高稳定性可以归因于弹性蛋白。各种病理，称为弹性蛋白病，与弹性蛋白缺乏症有关，如非综合征性主动脉瓣上狭窄（SVAS），威廉姆斯-贝伦综合征（WBS），常染色体显性遗传角质层（ADCL）。为了了解这些疾病，以及与弹性纤维降解相关的老化过程，并测试潜在的治疗分子以补偿弹性蛋白损伤，已经提出了不同的动物模型。考虑到使用斑马鱼的许多优点，我们在这里描述了弹性蛋白aparalog（elnasa12235）的斑马鱼突变体，特别关注心血管系统，并强调成年阶段的过早心脏瓣膜缺陷。
