Rathaur Pooja, Rodriguez Juan, Kuchtey John, Insignares Samuel, Jones Wendell B, Kuchtey Rachel W, Bassnett Steven
Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.
Department of Basic Sciences, University of Health Sciences and Pharmacy in St. Louis, St. Louis, MO 63110, USA.
Cells. 2024 Dec 18;13(24):2097. doi: 10.3390/cells13242097.
Marfan syndrome is an inherited connective tissue disorder that affects the cardiovascular, musculoskeletal, and ocular systems. It is caused by pathogenic variants in the fibrillin-1 gene (). Fibrillin is a primary component of microfibrils, which are found throughout the extracellular matrix (ECM) and provide elasticity and resilience to connective tissue. Microfibrils also play a role in signaling by sequestering growth factors and interacting with cell surface receptors. In many tissues, microfibrils are interwoven with elastin, collagens, and other elements of the ECM. However, uniquely in the ciliary zonule of the eye, microfibrils exist in cell-free bundles largely devoid of other components. This structure offers a rare opportunity to study a pure population of fibrillin microfibrils in a relatively native state. Here, we briefly review the organization of the zonule and describe recent experiments in which we measure zonular biomechanics, providing insights into microfibril dynamics that would be challenging to obtain in other contexts.
马凡综合征是一种遗传性结缔组织疾病，会影响心血管、肌肉骨骼和眼部系统。它由原纤维蛋白-1基因（）中的致病变异引起。原纤维蛋白是微原纤维的主要成分，微原纤维遍布细胞外基质（ECM），为结缔组织提供弹性和韧性。微原纤维还通过隔离生长因子并与细胞表面受体相互作用在信号传导中发挥作用。在许多组织中，微原纤维与弹性蛋白、胶原蛋白和ECM的其他成分交织在一起。然而，在眼部的睫状小带中，微原纤维独特地存在于基本不含其他成分的无细胞束中。这种结构为研究相对天然状态下的纯原纤维蛋白微原纤维群体提供了难得的机会。在这里，我们简要回顾睫状小带的组织结构，并描述我们最近测量睫状小带生物力学的实验，从而深入了解在其他情况下难以获得的微原纤维动力学。
