Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, China.
Bioengineered. 2021 Dec;12(1):1471-1483. doi: 10.1080/21655979.2021.1912547.
Vascular endothelial growth factor A (VEGFA) is a crucial growth factor, which participates in multiple processes of human growth and development, such as angiogenesis and osteogenesis and is also necessary for development of palate. The purpose of this study was to investigate the effect of a rare mutation (NM_001025366.2 773 T > C p.Val258Ala) on the cell functions and osteogenesis. Here, we found that the mutation has adverse effects on the function of human embryonic palatal plate mesenchymal (HEPM) cells, and may affect the development of palate. The mutation has adverse effects on promoting cell proliferation and migration and inhibiting apoptosis in HEPM and HEK-293 cells. In addition, the mutant allele has a negative influence on osteogenesis. Taken together, the rare variant of gene had an adverse effect on cell functions and osteogenesis, which may impact the development of the palate. And these findings suggested that mutation (c.773 T > C) may lead to nonsyndromic cleft lip with or without cleft palate and also provide a new insight into the mechanism of gene in osteogenesis and palatogenesis.
血管内皮生长因子 A（VEGFA）是一种重要的生长因子，参与人类生长发育的多个过程，如血管生成和骨生成，也是腭发育所必需的。本研究旨在探讨一种罕见突变（NM_001025366.2 773T>C p.Val258Ala）对细胞功能和骨生成的影响。我们发现该突变对人胚胎腭板间充质（HEPM）细胞的功能有不良影响，可能影响腭的发育。该突变对促进 HEPM 和 HEK-293 细胞的增殖、迁移和抑制凋亡有不良影响。此外，突变等位基因对成骨有负面影响。综上所述，基因的罕见变异对细胞功能和骨生成有不良影响，可能影响腭的发育。这些发现表明，突变（c.773T>C）可能导致非综合征性唇裂伴或不伴腭裂，并为基因在成骨和腭形成中的作用提供了新的见解。
