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Finalmente individuato il gene responsabile dell'Ittiosi volgare

Articolo ripreso da "Nature Genetics" di Marzo 2006, redatto da tre ricercatori (Irwin McLean, Frances Smith, Alan Irvine). 

Clicca qui per andare all'articolo originale

In breve:

Il gene è chiamato FLG acronimo di filaggrin che sta per filament aggregating protein . La carenza di questa proteina (causata da mutazione genetica) provoca la comparsa dell'ittiosi volgare, associata in varia misura con altre patologie, quali l'eczema e l'asma.

La ricerca degli scienziati si è articolata su una vasta platea di pazienti scozzesi, danesi e irlandesi; l'incidenza stimata è di 1 su 400, simile a quella in precedenza conosciuta.

L'articolo non parla di trattamenti, ma esprime la fondata speranza che potranno essere sviluppate idonee terapie, dal momento che ora si conosce il nemico da combattere.

 

L'articolo:

Nature Genetics 38 , 337 - 342 (2006)
Published online: 29 January 2006; | doi:10.1038/ng1743

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Frances J D Smith 1 , Alan D Irvine 2 , Ana Terron-Kwiatkowski 1 , Aileen Sandilands 1 , Linda E Campbell 1 , Yiwei Zhao 1 , Haihui Liao 1 , Alan T Evans 3 , David R Goudie 4 , Sue Lewis-Jones 5 , Gehan Arseculeratne 5 , Colin S Munro 6 , Ann Sergeant 6 , Gráinne O'Regan 2 , Sherri J Bale 7 , John G Compton 7 , John J DiGiovanna 8,  9 , Richard B Presland 10,  11 , Philip Fleckman 11 & W H Irwin McLean 1

  1. Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
  2. Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.
  3. Pathology, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
  4. Clinical Genetics, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
  5. Dermatology, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
  6. Department of Dermatology, South Glasgow University Hospitals NHS Trust, Glasgow, G51 4TF, UK.
  7. Gene Dx, Gaithersburg, Maryland 20877, USA.
  8. Division of Dermatopharmacology, Department of Dermatology, Brown Medical School and Rhode Island Hospital, Providence, Rhode Island 02903, USA.
  9. Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
  10. Oral Biology, School of Dentistry, University of Washington, Seattle, Washington 98195, USA.
  11. Division of Dermatology, Department of Medicine, University of Washington, Seattle, Washington 98195, USA.
Correspondence should be addressed to W H Irwin McLean w.h.i.mclean@dundee.ac.uk

Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans. The most widely cited incidence figure is 1 in 250 based on a survey of 6,051 healthy English schoolchildren 1 . We have identified homozygous or compound heterozygous mutations R501X and 2282del4 in the gene encoding filaggrin ( FLG ) as the cause of moderate or severe ichthyosis vulgaris in 15 kindreds. In addition, these mutations are semidominant; heterozygotes show a very mild phenotype with incomplete penetrance. The mutations show a combined allele frequency of ~4% in populations of European ancestry, explaining the high incidence of ichthyosis vulgaris. Profilaggrin is the major protein of keratohyalin granules in the epidermis. During terminal differentiation, it is cleaved into multiple filaggrin peptides that aggregate keratin filaments. The resultant matrix is cross-linked to form a major component of the cornified cell envelope. We find that loss or reduction of this major structural protein leads to varying degrees of impaired keratinization.
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