Fibroblast apoptosis in a patient affected by lamellar ichthyosis (Articolo in rivista)

Type
Label
  • Fibroblast apoptosis in a patient affected by lamellar ichthyosis (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Alternative label
  • Tavian D., Colombo R., Misiti M., Ena P., Ena L., Sampaolese B., Giardina B., Clementi M. (2009)
    Fibroblast apoptosis in a patient affected by lamellar ichthyosis
    in Journal of cutaneous pathology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Tavian D., Colombo R., Misiti M., Ena P., Ena L., Sampaolese B., Giardina B., Clementi M. (literal)
Pagina inizio
  • 417 (literal)
Pagina fine
  • 424 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 36 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
  • PubMed (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Laboratory of Human Molecular Biology and Genetics, Catholic University of the Sacred Heart 2National Institute of Molecular Genetics, Milan, Italy 3Department of Health and Motor Sciences, University of Cassino, Cassino, Italy 4Institute of Dermatology and Venereology, University of Sassari, Sassari, Italy 5CNR-ICRM, Institute of 'Chimica del Riconoscimento Molecolare', c/o Institute of Biochemistry and Clinical Biochemistry, Catholic University School of Medicine, Rome, Italy (literal)
Titolo
  • Fibroblast apoptosis in a patient affected by lamellar ichthyosis (literal)
Abstract
  • 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. 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. LI fibroblasts showing a reduction of fibronectin expression evidenced a strong inhibition of oxygen consumption, a dramatic drop in the mitochondrial membrane potential (Delta psi(m)), and a higher apoptotic index. The present results suggest a possible connection between the alterations in the keratinization process leading to LI and the observed increased fibroblast apoptosis. (literal)
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