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      Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

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          Abstract

          Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study, we have screened 16 patients affected by LI and found six new mutations: two transition/transversion (R37G, V112A), two nonsense mutations and two putative splice site both leading to a premature stop codon. The mutations are localized in exons 2 (N-terminal domain), 5, 11 (central catalytic domain), and none is located in the two beta-barrel C-terminal domains. In conclusion, this study expands the current knowledge on TGM1 mutation spectrum, increasing the characterization of mutations would provide more accurate prenatal genetic counselling for parents at-risk individuals.

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          The cornified envelope: a model of cell death in the skin.

          Eleonora Candi, Rainer Schmidt, Gerry Melino (2005)
          The epidermis functions as a barrier against the environment by means of several layers of terminally differentiated, dead keratinocytes - the cornified layer, which forms the endpoint of epidermal differentiation and death. The cornified envelope replaces the plasma membrane of differentiating keratinocytes and consists of keratins that are enclosed within an insoluble amalgam of proteins, which are crosslinked by transglutaminases and surrounded by a lipid envelope. New insights into the molecular mechanisms and the physiological endpoints of cornification are increasing our understanding of the pathological defects of this unique form of programmed cell death, which is associated with barrier malfunctions and ichthyosis.
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            Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

            Heiko Traupe, Fanny Morice-Picard, Witold K Jacyk … (2010)
            Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventually leading to the First Ichthyosis Consensus Conference held in Sorèze, France, on January 23 and 24, 2009, where subcommittees on different issues proposed terminology that was debated until consensus was reached. It was agreed that currently the nosology should remain clinically based. "Syndromic" versus "nonsyndromic" forms provide a useful major subdivision. Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the umbrella term, "keratinopathic ichthyosis"-under which are included epidermolytic ichthyosis, superficial epidermolytic ichthyosis, and ichthyosis Curth-Macklin. "Autosomal recessive congenital ichthyosis" is proposed as an umbrella term for the harlequin ichthyosis, lamellar ichthyosis, and the congenital ichthyosiform erythroderma group. As more becomes known about these diseases in the future, modifications will be needed. We have achieved an international consensus for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research. Copyright © 2010 American Academy of Dermatology, Inc. All rights reserved.
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              Epithelial cell polarity: a major gatekeeper against cancer?

              C Royer, Xin Lu (2011)
              The correct establishment and maintenance of cell polarity are crucial for normal cell physiology and tissue homeostasis. Conversely, loss of cell polarity, tissue disorganisation and excessive cell growth are hallmarks of cancer. In this review, we focus on identifying the stages of tumoural development that are affected by the loss or deregulation of epithelial cell polarity. Asymmetric division has recently emerged as a major regulatory mechanism that controls stem cell numbers and differentiation. Links between cell polarity and asymmetric cell division in the context of cancer will be examined. Apical–basal polarity and cell–cell adhesion are tightly interconnected. Hence, how loss of cell polarity in epithelial cells may promote epithelial mesenchymal transition and metastasis will also be discussed. Altogether, we present the argument that loss of epithelial cell polarity may have an important role in both the initiation of tumourigenesis and in later stages of tumour development, favouring the progression of tumours from benign to malignancy.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Cell Death Dis
                Journal ID (iso-abbrev): Cell Death Dis
                Title: Cell Death & Disease
                Publisher: Nature Publishing Group
                ISSN (Electronic): 2041-4889
                Publication date (Print): October 2012
                Publication date (Electronic): 25 October 2012
                Publication date PMC-release: 1 October 2012
                Volume: 3
                Issue: 10
                Page: e416
                Affiliations
                [1 ]IDI-IRCCS c/o Department of Experimental Medicine and Surgery, University of Tor Vergata , Rome, Italy
                [2 ]Department of Biology, University of Tor Vergata , Rome, Italy
                [3 ]Department of Experimental Medicine and Surgery, University of Tor Vergata , Rome, Italy
                [4 ]IDI-IRCCS, Istituto Dermopatico dell'Immacolata, Via Monti di Creta 104 , Rome, Italy
                Author notes
                [* ]Department of Experimental Medicine and Surgery, University of Tor Vergata , via Montpellier, 1, Rome 00133, Italy. Tel: +39 06 7259 6487; Fax: +39 06 7259 6977; E-mail: candi@ 123456uniroma2.it
                Article
                Publisher Item ID: cddis2012152
                DOI: 10.1038/cddis.2012.152
                PMC ID: 3481139
                PubMed ID: 23096117
                SO-VID: e17ee293-3dff-4830-952a-a8abb854ee73
                Copyright © Copyright © 2012 Macmillan Publishers Limited
                License:

                This work is licensed under the Creative Commons Attribution-NonCommercial-No Derivative Works 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/

                History
                Date received : 21 May 2012
                Date revision received : 27 August 2012
                Date accepted : 27 August 2012
                Categories
                Subject: Original Article

                ScienceOpen disciplines: Cell biology
                Keywords: transglutaminase 1,keratinocytes,mutation,ichthyosis,differentiation
                Data availability:
                ScienceOpen disciplines: Cell biology
                Keywords: transglutaminase 1, keratinocytes, mutation, ichthyosis, differentiation

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