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Fibroblast apoptosis in a patient affected by Lamellar ichthyosis

Tavian, Daniela and Colombo, Roberto and Misiti, Francesco and Ena, Pasquale and Ena, Luca and Sampaolese, Beatrice and Giardina, Bruno and Clementi, Maria Elisabetta (2009) Fibroblast apoptosis in a patient affected by Lamellar ichthyosis. Journal of Cutaneous Pathology, Vol. 36 (4), p. 417-424. eISSN 1600-0560. Article.

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DOI: 10.1111/j.1600-0560.2008.01078.x

Abstract

Background: Lamellar ichthyosis (LI) is a congenital recessive skin disorder characterized by generalized scaling and hyperkeratosis. The pathology may be caused by mutations in transglutaminase 1 (TGM1) gene that encodes an enzyme critical for terminally differentiating keratinocytes. Because of evidences that transglutaminase enzymes are involved in programmed cell death, we investigated morphological and biochemical apoptotic parameters in cultured skin fibroblasts from a patient with a severe LI and homozygous for the TGM1 R142H mutation. Method: The principle apoptotic signals (mitochondrial membrane potential, analysis of oxygen consumption, DNA fragmentation and Bax/Bcl-2 gene expression) were analyzed in cultured fibroblasts from a LI patient, his mother (TGM1 mutation carrier) and a control subject. Results: LI fibroblasts showing a reduction of fibronectin expression evidenced a strong inhibition of oxygen consumption, a dramatic drop in the mitochondrial membrane potential (Δψm), and a higher apoptotic index. Conclusion: The present results suggest a possible connection between the alterations in the keratinization process leading to LI and the observed increased fibroblast apoptosis.

Item Type:Article
ID Code:1750
Status:Published
Refereed:Yes
Uncontrolled Keywords:Lamellar ichthyosis (LI), transglutaminase 1 (TGM1), keratinization process, fibroblast apoptosis
Subjects:Area 06 - Scienze mediche > MED/35 Malattie cutanee e veneree
Divisions:001 Università di Sassari > 03 Istituti > Dermatologia
Publisher:Blackwell Munksgaard / Wiley
eISSN:1600-0560
Additional Information:Pubblicato online il 20 ottobre 2008.
Deposited On:18 Aug 2009 10:06

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