Elastin Production and Degradation in Cutis Laxa Acquisita

Fornieri, C.; Quaglino, Daniela; Lungarella, Giuseppe; Cavarra, Eleonora; Tiozzo, Roberta; Giro, M.G.; Canciani, Mario; Davidson, Jeffrey M.; Ronchetti, Ivonne Pasquali

doi:10.1111/1523-1747.ep12396893

Cited by 53 publications

(38 citation statements)

References 35 publications

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“…In this disease, dermal elastic fibers are fragmented and severely reduced in number, leading to loose skin with decreased resilience and elasticity. Although cutis laxa is a heterogeneous group of disorders that can be caused by several factors, such as low lysyl oxidase activity and reduced elastase inhibitory capacity (Fornieri et al, 1994), the identification of mutations in the elastin gene suggests that initial events of elastic fiber assembly may also be affected in some individuals. The ability to generate stably transfected PE cell lines that express these various mutations will now enable us to better study and understand the pathogenesis of these debilitating diseases.…”

Section: Discussionmentioning

confidence: 99%

Characterization of an In Vitro Model of Elastic Fiber Assembly

Robb¹,

Wachi²,

Schaub

et al. 1999

MBoC

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Elastic fibers consist of two morphologically distinct components: elastin and 10-nm fibrillincontaining microfibrils. During development, the microfibrils form bundles that appear to act as a scaffold for the deposition, orientation, and assembly of tropoelastin monomers into an insoluble elastic fiber. Although microfibrils can assemble independent of elastin, tropoelastin monomers do not assemble without the presence of microfibrils. In the present study, immortalized ciliary body pigmented epithelial (PE) cells were investigated for their potential to serve as a cell culture model for elastic fiber assembly. Northern analysis showed that the PE cells express microfibril proteins but do not express tropoelastin. Immunofluorescence staining and electron microscopy confirmed that the microfibril proteins produced by the PE cells assemble into intact microfibrils. When the PE cells were transfected with a mammalian expression vector containing a bovine tropoelastin cDNA, the cells were found to express and secrete tropoelastin. Immunofluorescence and electron microscopic examination of the transfected PE cells showed the presence of elastic fibers in the matrix. Biochemical analysis of this matrix showed the presence of cross-links that are unique to mature insoluble elastin. Together, these results indicate that the PE cells provide a unique, stable in vitro system in which to study elastic fiber assembly.

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Section: Discussionmentioning

confidence: 99%

Characterization of an In Vitro Model of Elastic Fiber Assembly

Robb¹,

Wachi²,

Schaub

et al. 1999

MBoC

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“…12,13 The ELN protein is responsible for tissue elasticity. Elastic fibers are composed of 2 morphologically and chemically distinct components.…”

Section: Commentmentioning

confidence: 99%

A Novel Elastin Gene Mutation Resulting in an Autosomal Dominant Form of Cutis Laxa

Rodríguez‐Revenga¹,

Iranzo²,

Badenas³

et al. 2004

Arch Dermatol

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Background: Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal dominant form of cutis laxa.Observations: A 45-year-old woman and her 19-yearold son presented with inelastic, loose-hanging, and wrinkled skin that appeared prematurely aged and were clinically diagnosed as having cutis laxa. Mutational analy-sis of the elastin gene evidenced a novel mutation (2292delC) that predicts a frameshift in the coding region and causes translation to proceed into the 3Јuntranslated region. This would replace the C-terminal amino acid of the normal elastin protein with a novel sequence. Conclusion:This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease.

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“…Reduced amounts of elastic fibres are not due to a decreased synthesis but to an increased destruction. Evaluation of elastin mRNA expression in acquired cutis laxa and of tropo-elastin production does not reveal differences from controls [21]. Fibroblasts from acquired cutis laxa express elastolytic activity, unlike control skin fibroblasts or fibroblasts from inherited cutis laxa [22].…”

Section: Discussionmentioning

confidence: 99%

Increased Fibroblast Elastase Activity in Acquired Cutis laxa

Bouloc¹,

Godeau

Zeller³

et al. 1999

Dermatology

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Background: Acquired cutis laxa is a rare disease characterized by sagging skin, premature wrinkling and reduced skin elasticity. Observation: We report a 21-year-old woman, who presented with acquired cutis laxa on the face and the ear lobes. Urticarial papules had preceded for 6 years. There was no systemic involvement. Skin specimens were obtained from lax skin and urticarial papules, and from healthy controls. Histology showed only few perivascular lymphocytes in lax ear skin and a dense inflammatory infiltrate in urticarial skin. In both biopsies elastic fibres were decreased as demonstrated by computerized morphometric analyses. Elastase activities of fibroblasts in culture were evaluated. There was a 2- to 3-fold increase in elastase activity in urticarial skin fibroblasts, contrasting with a normal elastase activity in lax ear skin. Conclusion: Our findings suggest that the inflammatory cells could play a significant role in the destruction of elastic fibres.

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Elastin Production and Degradation in Cutis Laxa Acquisita

Cited by 53 publications

References 35 publications

Characterization of an In Vitro Model of Elastic Fiber Assembly

Characterization of an In Vitro Model of Elastic Fiber Assembly

A Novel Elastin Gene Mutation Resulting in an Autosomal Dominant Form of Cutis Laxa

Increased Fibroblast Elastase Activity in Acquired Cutis laxa

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