Boson W L, Gomez R S, Araujo L, Kalapothakis E, Friedman E, De Marco L
Department of Pharmacology, Instituto de Ciencias Biologicas, Belo Horizonte, Brazil.
Anticancer Res. 1998 Nov-Dec;18(6A):4415-7.
Myxoma is a rare bone tumor of the mandible and maxillary sinus whose etiology and underlying molecular mechanisms remain unknown. Mutations that inhibit the GTPase activity of the a subunit of the stimulating G protein (Gsa) have been demonstrated in the myocardium of patients with McCune-Albright syndrome. The histopathological similarities shared by cardiac and jaw myxomas coupled with the paucity of reported candidate genes involved in jaw tumor pathogenesis, prompted us to investigate for the presence of gsp mutations in 23 sporadic jaw myxomas.
We used the polymerase chain reaction (PCR) to amplify the appropriate genomic fragments, followed by denaturing gradient gel electrophoresis (DGGE) analysis.
No gsp mutations could be demonstrated in any of tumors analyzed, while the technique has a proven capability to detect these specific mutations.
We conclude that mutations of the Gs alpha gene rarely, if ever, are associated with sporadic jaw myxomas tumorigenesis.
黏液瘤是一种罕见的下颌骨和上颌窦骨肿瘤,其病因及潜在分子机制尚不清楚。在McCune - Albright综合征患者的心肌中已证实存在抑制刺激性G蛋白(Gsa)α亚基GTPase活性的突变。心脏和颌骨黏液瘤在组织病理学上的相似性,以及报道的参与颌骨肿瘤发病机制的候选基因较少,促使我们研究23例散发性颌骨黏液瘤中是否存在gsp突变。
我们使用聚合酶链反应(PCR)扩增合适的基因组片段,随后进行变性梯度凝胶电泳(DGGE)分析。
在所分析的任何肿瘤中均未证实存在gsp突变,而该技术已被证明有能力检测这些特定突变。
我们得出结论,Gsα基因突变极少(如果有的话)与散发性颌骨黏液瘤的肿瘤发生相关。