BMC oral health · 2025
WNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Chen Yiqi, Li Xuechun, Ma Siyuan, Sun Jing, Zhang Caiqi, Wu Yi, Liu Yiting, Wu Xiaoshan, Gao Qingping
Аннотация
BACKGROUND: Permanent tooth loss is a key feature of non-syndromic tooth agenesis (NSTA). However, whether this is influenced by the mandibular environment remains unclear. We report a case of simultaneous variations in the tooth agenesis-associated genes WNT10A and SMOC2 and the bone formation-associated gene LRP4, exploring the potential impact of the mandibular environment on tooth agenesis.
METHODS: A 19-year-old patient with NSTA underwent clinical examination and genetic analysis using whole-exome sequencing and Sanger sequencing. We reanalyzed single-cell RNA-seq datasets from human molars and surrounding tissues and performed immunofluorescent staining on key cell subsets.
RESULTS: The patient exhibited significant retention of primary teeth and loss of nine permanent teeth, with cone-beam computed tomography(CBCT) showing increased bone density and structural abnormalities. Genetic analysis revealed a novel variation in LRP4 (c.1831 C > T, p.R611C), and variations in SMOC2 (c.1138 C > T, p.R380C) and WNT10A (c.354T > G, p.Y118*). Protein structure analysis revealed differences in the RMSD and hydrogen bonds between mutated LRP4 and SMOC2. Additionally, LRP4-positive alveolar bone cells send Fibroblast Growth Factor (FGF) signals to WNT10A-positive and SMOC2-positive dental pulp cells.
CONCLUSIONS: Based on a case of NSTA with SMOC2 and novel LRP4 variations linked to tooth agenesis and bone development, we revealed that LRP4 + alveolar bone cells may influence tooth development through FGF signaling, thereby regulating WNT10A + and SMOC2 + dental pulp cells.
METHODS: A 19-year-old patient with NSTA underwent clinical examination and genetic analysis using whole-exome sequencing and Sanger sequencing. We reanalyzed single-cell RNA-seq datasets from human molars and surrounding tissues and performed immunofluorescent staining on key cell subsets.
RESULTS: The patient exhibited significant retention of primary teeth and loss of nine permanent teeth, with cone-beam computed tomography(CBCT) showing increased bone density and structural abnormalities. Genetic analysis revealed a novel variation in LRP4 (c.1831 C > T, p.R611C), and variations in SMOC2 (c.1138 C > T, p.R380C) and WNT10A (c.354T > G, p.Y118*). Protein structure analysis revealed differences in the RMSD and hydrogen bonds between mutated LRP4 and SMOC2. Additionally, LRP4-positive alveolar bone cells send Fibroblast Growth Factor (FGF) signals to WNT10A-positive and SMOC2-positive dental pulp cells.
CONCLUSIONS: Based on a case of NSTA with SMOC2 and novel LRP4 variations linked to tooth agenesis and bone development, we revealed that LRP4 + alveolar bone cells may influence tooth development through FGF signaling, thereby regulating WNT10A + and SMOC2 + dental pulp cells.