Biological viability of the bone marrow stem cell cultured from bone disease patients

从骨病患者体内培养的骨髓干细胞的生物学活性

• 批准号: 12671961
• 负责人: YAMAZAKI Yasuharu
• 金额: $ 2.11万
• 依托单位: Kitasato University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2001
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-12671961/
• 关键词: Apert syndrome; Crouzon syndrome; Craniosynostosis; Apert症候群; Crouzon症候群; FGF2

The congenital cranio-maxillo-facial disorder is attributable to a lot of diseases and syndromes in the condition with abnormality of the head and the face. The Crouzon syndrome and the Apert syndrome, etc. are reported as abnormality of the FGFR gene family in that. However, even if it is the same disease, a clinical symptom is various from the serious to the slight stage, also it is true even if it is a congenital craniofacial disorder by the cause of same gene (FGFR2) as the phenotype.We thought that this depended on the change of a biological viability of the cell and the participation of a related gene.The change of a biological viability of the cell analyzed the bone marrow stem cell cultured from the cranio- maxillo-facial disorder patient.<Experimental method> B-FGF was administered to the osteoblasticlike cell from Apert syndrome patient. After having cultured that cell for a certain period, we measured both the viability of alkaline phosphatase (ALP) and the content of calciu … More m. The control used the cell from mandibular prognathism pateint. <Result> In the control group, alkaline phosphatase (ALP)'s viability and the content of calcium was inhibitory by the FGF administering. On the other hand, the inhibition by FGF was not observed in Apert syndrome patient's cell. This result suggests this possibility that the bone differentiation of the osteoblastic cell is not inhibited by FGF and the bone differentiation progressed compared with a healthy person, by the gene mutation of FGFR in the Apert syndrome patient. This was thought to be one of the generation causes of the craniosynostosis that was a clinical symptom of the apert syndrome.Moreover, in the participation of a related gene, the homeotic gene of hand between Apert syndrome patient and the control group were researched in genetic polymorphism.<Result>The possibility of the participation of a related gene was suggested in the Apert syndrome patient. It is scheduled to keep researching further- in the future. Informed consent is received from the patient based on the style permitted at this university ethics committee and the above-mentioned research is done. Less

先天性颅颌面畸形是在头面部畸形的情况下，由多种疾病和综合征引起的。Crouzon综合征和Apert综合征等被报道为FGFR基因家族的异常，然而，即使是同一种疾病，临床症状也是从严重到轻微的不同阶段，即使这是由同一基因（FGFR 2）引起的先天性颅面疾病，也是如此作为表型。我们认为这取决于细胞生物活性的变化和相关基因的参与。细胞生物活性的变化分析了骨髓从颅颌面疾病患者中培养的干细胞。<Experimental method>将B-FGF应用于Apert综合征患者的成骨样细胞。培养一段时间后，测定细胞碱性磷酸酶（ALP）活性和钙离子含量， ...更多信息 M.对照组采用下颌骨肥大患者的细胞。<Result>在对照组中，碱性磷酸酶（ALP）的活力和钙含量被FGF给药抑制。另一方面，在Apert综合征患者的细胞中未观察到FGF的抑制。该结果表明，由于Apert综合征患者中FGFR的基因突变，成骨细胞的骨分化不受FGF抑制，并且与健康人相比骨分化进展。本研究还对Apert综合征患者与对照组的手同源异型基因在相关基因参与下的遗传多态性进行了研究。<Result>提示Apert综合征患者可能存在相关基因的参与。它计划在未来继续进行进一步的研究。根据该大学伦理委员会允许的方式从患者处获得知情同意，并进行上述研究。少

项目成果

Sakai N, Tokunaga K, Yamazaki Y, Shida H, Sakata Y, Susami T, Nakakita N, Takato T, Uchinuma E: "Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis"J Craniofac Surg. 12(6). 580-595 (2001)

Sakai N、Tokunaga K、Yamazaki Y、Shida H、Sakata Y、Susami T、Nakakita N、Takato T、Uchinuma E：“日本颅缝早闭患者成纤维细胞生长因子受体 2 (FGFR2) 的序列分析”J Craniofac Surg。

大井田新一郎: "PCR-SSCP法による遺伝子診断"鶴見歯学. 26(3). 345-352 (2000)

Shinichiro Oida：“使用 PCR-SSCP 方法进行基因诊断”Tsurumi Dentistry 26(3) (2000)。

宮島桜: "Hemifacial microsomiaの外科的矯正治療例"日本顎変形症学会雑誌. 10(3). 300-309 (2000)

Sakura Miyajima：“半面畸形的外科正畸治疗实例”日本颌畸形协会杂志 10(3) 300-309 (2000)。

Sakai N: "A case of Japanese patient with cleidocranial dysplasia prossessing a mutation of CBFA1 gene"J Craniofac Surg. (in Press).

Sakai N：“一例患有 CBFA1 基因突变的日本锁骨颅骨发育不良患者”J Craniofac Surg。

Sakai N, Hasegawa H, Yamazaki Y, Ui K, Tokunaga K, Hirose R, Uchinuma E, Susami T, Takato T: "A case of Japanese patient with cleidocranial dysplasia prossessing a mutation of CBFA1 gene"J Craniofac Surg. (in press).

Sakai N、Hasekawa H、Yamazaki Y、Ui K、Tokunaga K、Hirose R、Uchinuma E、Susami T、Takato T：“日本锁骨颅骨发育不良患者存在 CBFA1 基因突变”J Craniofac Surg。