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

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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.