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The pathomechanism responsible for development of these phenotypic changes is not well understood. Here, we report on a 16\u2010month\u2010old boy with CMTC, generalized vascular abnormalities and severe, nitric oxide sensitive, pulmonary hypertension associating with markedly elevated level of blood copper. Results of laboratory investigations indicated that primary cultures (passage one) of dermal fibroblasts derived from this patient were capable of normal synthesis of tropoelastin, but their net deposition of mature elastic fibers was significantly diminished as compared with cultures of normal fibroblasts. Because the low net deposition of elastin was reversed when 1 mg\/ml of \u03b11\u2010antitrypsin was added to the media, we conclude that heightened elastolysis by endogenous serine proteinase's is responsible for the low net elastogenesis by CMTC fibroblasts. Since simultaneous addition of 30 \u00b5M CuSO<jats:sub>4<\/jats:sub> and 1 mg\/ml \u03b11\u2010antitrypsin abolished the beneficial effect of this serine proteinase's inhibitor, we concluded that this may be due to copper\u2010dependent inactivation of \u03b11\u2010antitrypsin. Our data suggest that a high level of free copper may constitute a major triggering factor contributing to the development of the CMTC phenotype. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32474","type":"journal-article","created":{"date-parts":[[2008,9,15]],"date-time":"2008-09-15T21:14:41Z","timestamp":1221513281000},"page":"2520-2527","source":"Crossref","is-referenced-by-count":8,"title":["High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia 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