Abstract
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.
Highlights
Is a rare extremity congenital anomaly with the clinical manifestation of aggressive overgrowth of adipose tissue in digits or limbs, with or without hyperostosis and nerve enlargement (Fig. 1A and B)
The expression levels of adipogenic genes in undifferentiated Mac-adipose-derived stem cells (ASCs) were evaluated. quantitative real-time polymerase chain reaction (qRT-PCR) analysis revealed that the mRNA expression levels of Adiponectin, C/EBPα, and PPARγ were significantly lower in undifferentiated Mac-ASCs than in Sat-ASCs (Fig. 5), suggesting that Mac-ASCs were less adipogenic differentiation-committed. These findings indicated a regression in the differentiation stage where the cells came to have greater potentiality in Mac-ASCs. Since their first identification in 2001, ASCs have been extensively studied as an ideal substitute for bone marrow-derived mesenchymal stem cells (BM-MSCs) in tissue engineering and regenerative medicine
Is a progressive congenital anomaly characterized by aggressive overgrowth of the adipose tissue, frequently accompanied with hyperostosis and nerve enlargement in digits or limbs[1,2,3]
Summary
Is a rare extremity congenital anomaly with the clinical manifestation of aggressive overgrowth of adipose tissue in digits or limbs, with or without hyperostosis and nerve enlargement (Fig. 1A and B). This disorder seriously influences limb function and appearance, especially when the whole limb or even half of the body is affected. ASCs derived from subcutaneous adipose tissues of different anatomic regions display comparable proliferation, adipogenic, osteogenic, and chondrogenic differentiation potentials[7]. Osteogenic and chondrogenic differentiation capacities were enhanced in Mac-ASCs, while their adipogenic potential was reduced These altered characteristics of Mac-ASCs could contribute to the frequently observed hyperostosis and nerve enlargement accompanying adipose tissue overgrowth in macrodactyly. These findings unraveled a potential pathological relevance between altered ASC characteristics and macrodactyly
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