Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200011, P.R. China.
Sci Rep. 2017 Sep 11;7(1):11090. doi: 10.1038/s41598-017-11666-3.
Macrodactyly is a congenital disease characterized by aggressive overgrowth of adipose tissue in digits or limbs frequently accompanied with hyperostosis and nerve enlargement; its pathological mechanism is poorly understood. Adipose-derived stem cells (ASCs) have been extensively studied in tissue engineering and regenerative medicine as an ideal alternative substitute for bone marrow-derived mesenchymal stem cells (BM-MSCs), but their pathological role is largely unknown. In this study, ASCs from macrodactyly adipose tissues (Mac-ASCs) were isolated and compared to ASCs derived from the normal abdominal subcutaneous adipose tissue (Sat-ASCs) for cell morphology, surface marker expression, proliferation rate, and tri-lineage differentiation potential. Despite similar cell morphology and cell surface marker expression, Mac-ASCs showed higher cell proportion in the S phase and increased proliferation compared with Sat-ASCs. Moreover, osteogenic and chondrogenic differentiation capacities were enhanced in Mac-ASCs, with reduced adipogenic potential. In addition, the expression levels of adipogenic genes were lower in undifferentiated Mac-ASCs than in Sat-ASCs. These findings unraveled enhanced proliferation activity, a regression in the differentiation stage, and greater potentiality of ASCs in macrodactyly, which could contribute to hyperostosis and nerve enlargement in addition to adipose tissue overgrowth in patients.
巨指症是一种先天性疾病，其特征是指（趾）或肢体的脂肪组织过度生长，常伴有骨质增生和神经增大；其病理机制尚不清楚。脂肪来源干细胞（ASCs）在组织工程和再生医学中作为骨髓间充质干细胞（BM-MSCs）的理想替代物得到了广泛研究，但它们的病理作用在很大程度上尚不清楚。在这项研究中，从巨指症脂肪组织中分离出的脂肪来源干细胞（Mac-ASCs）与来自正常腹部皮下脂肪组织的脂肪来源干细胞（Sat-ASCs）进行了比较，以评估其细胞形态、表面标志物表达、增殖率和三系分化潜能。尽管细胞形态和细胞表面标志物表达相似，但 Mac-ASCs 的 S 期细胞比例更高，增殖速度更快。此外，Mac-ASCs 的成骨和成软骨分化能力增强，而成脂分化潜能降低。此外，未分化的 Mac-ASCs 中的脂肪生成基因表达水平低于 Sat-ASCs。这些发现揭示了 Mac-ASCs 中增殖活性增强、分化阶段退化以及多能性增强，这可能有助于患者的骨质增生和神经增大，除了脂肪组织过度生长之外。
