Department of Mechanical Engineering, Columbia University, New York, NY, USA.
Department of Biomedical Engineering, Columbia University, New York, NY, USA.
Biomech Model Mechanobiol. 2023 Aug;22(4):1113-1127. doi: 10.1007/s10237-023-01704-7. Epub 2023 Apr 6.
Renal cystogenesis is the pathological hallmark of autosomal dominant polycystic kidney disease, caused by PKD1 and PKD2 mutations. The formation of renal cysts is a common manifestation in ciliopathies, a group of syndromic disorders caused by mutation of proteins involved in the assembly and function of the primary cilium. Cystogenesis is caused by the derailment of the renal tubular architecture and tissue deformation that eventually leads to the impairment of kidney function. However, the biomechanical imbalance of cytoskeletal forces that are altered in cells with Pkd1 mutations has never been investigated, and its nature and extent remain unknown. In this computational study, we explored the feasibility of various biomechanical drivers of renal cystogenesis by examining several hypothetical mechanisms that may promote morphogenetic markers of cystogenesis. Our objective was to provide physics-based guidance for our formulation of hypotheses and our design of experimental studies investigating the role of biomechanical disequilibrium in cystogenesis. We employed the finite element method to explore the role of (1) wild-type versus mutant cell elastic modulus; (2) contractile stress magnitude in mutant cells; (3) localization and orientation of contractile stress in mutant cells; and (4) sequence of cell contraction and cell proliferation. Our objective was to identify the factors that produce the characteristic tubular cystic growth. Results showed that cystogenesis occurred only when mutant cells contracted along the apical-basal axis, followed or accompanied by cell proliferation, as long as mutant cells had comparable or lower elastic modulus than wild-type cells, with their contractile stresses being significantly greater than their modulus. Results of these simulations allow us to focus future in vitro and in vivo experimental studies on these factors, helping us formulate physics-based hypotheses for renal tubule cystogenesis.
肾囊肿发生是常染色体显性多囊肾病的病理标志,由 PKD1 和 PKD2 基因突变引起。囊肿形成是纤毛病的一种常见表现,纤毛病是一组综合征疾病,由参与初级纤毛组装和功能的蛋白突变引起。囊肿发生是由于肾小管结构的脱轨和组织变形,最终导致肾功能受损。然而,PKd1 突变细胞中细胞骨架力的生物力学失衡从未被研究过,其性质和程度仍然未知。在这项计算研究中,我们通过检查几种可能促进囊肿发生形态发生标记物的假设机制,探讨了肾囊肿发生的各种生物力学驱动因素的可行性。我们的目标是为我们的假说制定和设计研究生物力学失衡在囊肿发生中的作用的实验研究提供基于物理的指导。我们使用有限元方法来探讨(1)野生型与突变细胞弹性模量;(2)突变细胞中的收缩应力大小;(3)突变细胞中收缩应力的定位和方向;(4)细胞收缩和细胞增殖的顺序的作用。我们的目标是确定产生特征性管状囊性生长的因素。结果表明,只有当突变细胞沿顶底轴收缩,随后或伴随着细胞增殖时,才会发生囊肿发生,只要突变细胞的弹性模量与野生型细胞相当或更低,并且它们的收缩应力明显大于其模量。这些模拟的结果使我们能够将未来的体外和体内实验研究集中在这些因素上,帮助我们为肾小管囊肿发生制定基于物理的假说。