Abstract
Fibroblasts grown from the skin of patients with Marfan's syndrome (mother and son) were investigated cytogenetically and biochemically together with fibroblasts from healthy individuals.
In Marfan's syndrome the cross-linking of the tropocollagen chains is disturbed already on the cellular level. The high ratio of soluble collagen to insoluble collagen (3:1), compared with controls, where the ratio is 1:1, supports this concept. The high free hydroxyproline content in normal fibroblasts and in those of Marfan's syndrome (in early passages) forming about 70% of total cell hydroxyproline speaks for the participation of fibroblasts not only in the synthesis but also in the catabolism of newly formed young forms of collagenous proteins. In contrast to controls the fibroblasts from the skin of both patients suffering from Marfan's syndrome changed in the sense of ageing depending on the duration of their cultivation in vitro. This stability is illustrated by the equalization of the ratio of soluble to insoluble collagenous proteins to 1:1.
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Macek, M., Hurych, J., Chvapil, M. et al. Study on fibroblasts in Marfan's syndrome. Hum Genet 3, 87–97 (1966). https://doi.org/10.1007/BF00291289
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DOI: https://doi.org/10.1007/BF00291289