Rowe D W, McGoodwin E B, Martin G R, Sussman M D, Grahn D, Faris B, Franzblau C
J Exp Med. 1974 Jan 1;139(1):180-92. doi: 10.1084/jem.139.1.180.
A genetic abnormality in collagen and elastin cross-linking resembling experimental lathyrism has been identified in mice. The defect is an X-linked trait, attributed to the mottled locus which also influences coat color. The affected mice have aneurysms of the aorta and its branches, weak skin, and bone deformities in a spectrum of severity varying with the alleles at the mottled locus. A defect in the cross-linking of collagen was demonstrated in the skin of the affected animals by a marked increase in collagen extractability and a reduced proportion of cross-linked components in the extracted collagen. A decrease in lysine-derived aldehyde levels was found in both skin collagen and aortic elastin similar to that found in lathyritic tissue. Furthermore the in vitro formation of lysine-derived aldehyde was reduced. Thus the cause of the connective tissue abnormalities in these mice appears to be a defect in cross-link formation due to an impairment in aldehyde formation.
在小鼠中已发现一种类似于实验性山黧豆中毒的胶原蛋白和弹性蛋白交联的基因异常。该缺陷是一种X连锁性状，归因于斑驳位点，该位点也影响毛色。受影响的小鼠主动脉及其分支有动脉瘤、皮肤脆弱，且骨骼畸形，其严重程度因斑驳位点的等位基因而异。通过胶原蛋白提取率显著增加以及提取的胶原蛋白中交联成分比例降低，在受影响动物的皮肤中证实了胶原蛋白交联存在缺陷。在皮肤胶原蛋白和主动脉弹性蛋白中均发现赖氨酸衍生醛水平降低，类似于在山黧豆中毒组织中发现的情况。此外，赖氨酸衍生醛的体外形成减少。因此，这些小鼠结缔组织异常的原因似乎是由于醛形成受损导致交联形成缺陷。
