Forensic pathological study of relationship between cerebral aneurysm and type III collagen

脑动脉瘤与Ⅲ型胶原关系的法医病理学研究

• 批准号: 07670491
• 负责人: UENO Yasuhiro
• 金额: $ 1.41万
• 依托单位: Kobe University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1995
• 资助国家: 日本
• 起止时间: 1995 至 1996
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-07670491/
• 关键词: Cerebral aneurysm; Type III collagen; COL3A1; DNA polymorphism; PCR-RFLP; Immunohistochemistry; 遺伝子

The distribution of type III and type I collagen in the wall of cerebral aneurysms was analyzed immunohistochemically in 5 victims due to rupture of cerebral aneurysm. The wall of the aneurysms consisted of thickened intima and adventitia, which were immunostained with anti-type I collagen antibody, and were lightly stained with anti-type III collagen antibody. The type III collagen were distributed in the media and adventitia of the cerebral arteries. There were no marked difference in the distribution of type III collagen between in the wall of cerebral arteries with aneurysm and in that of those without aneurysm. These findings show that the wall of aneurysm consist mainly of type I collagen.We studied relationship between polymorphisms of type III collagen gene (COL3A1), i.e., G to A polymorphism in exon 31 and C to T in exon 33, and cerebral aneurysm. DNA was extracted from 84 cases of sudden deaths due to illness. The gene frequency of C-allele and T-allele in exon 33 were 0.08 and 0.92 in the group of rupture of cerebral aneurysm (6 cases), while these were 0.05 and 0.95 in the control group (58 of sudden cardiac deaths), respectively. Those of G-allele and A-allele in exon 31 were 0.58 and 0.42 in the group of rupture of cerebral aneurysm, while these were 0.58 and 0.42 in the control group, respectively. In the group of arterial diseases (20 cases of cerebral aneurysm, aortic aneurysm or cerebral hemorrhage), those of C-allele and T-allele were 0.12 and 0.88, and those of G-allele and A-allele were 0.5 and 0.5, respectively. The frequencies of C-allele in the group of rupture of cerebral aneurysm and in the group of arterial diseases were higher than that in the control group, though there were no significant differences in those both in exon 31 and in exon 33 among the three groups. These results suggest that the mutation in exon 33 of COL3A1 may relate to rupture of cerebral aneurysms.

对5例脑动脉瘤破裂患者的脑动脉瘤壁中III型和I型胶原的分布进行免疫组织化学分析。动脉瘤壁由增厚的内膜和外膜组成，用抗I型胶原抗体进行免疫染色，并用抗III型胶原抗体进行浅染色。 III型胶原分布于脑动脉中层和外膜。有动脉瘤和无动脉瘤的脑动脉壁中Ⅲ型胶原的分布无明显差异。这些发现表明动脉瘤壁主要由I型胶原组成。我们研究了III型胶原基因(COL3A1)的多态性，即外显子31中的G到A多态性和外显子33中的C到T多态性与脑动脉瘤之间的关系。从84例因病猝死的病例中提取了DNA。脑动脉瘤破裂组（6例）第33外显子C等位基因和T等位基因的基因频率分别为0.08和0.92，而对照组（心源性猝死58例）分别为0.05和0.95。脑动脉瘤破裂组第31号外显子G等位基因和A等位基因分别为0.58和0.42，而对照组分别为0.58和0.42。动脉疾病组（脑动脉瘤、主动脉瘤、脑出血20例）中，C等位基因、T等位基因分别为0.12、0.88，G等位基因、A等位基因分别为0.5、0.5。脑动脉瘤破裂组和动脉疾病组的C等位基因频率均高于对照组，但三组中31号外显子和33号外显子的C等位基因频率无显着性差异。这些结果提示COL3A1外显子33的突变可能与脑动脉瘤破裂有关。