The filaggrin story: novel insights into skin-barrier function and disease.
Recent reports have uncovered the key role of the protein filaggrin in maintaining an effective skin barrier against the external environment. Loss-of-function mutations in the profilaggrin gene (FLG) are common and are present in up to 10% of the population. These mutations are the cause of the semi-dominant skin-scaling disorder ichthyosis vulgaris and are a major risk factor for the development of atopic dermatitis. The discovery of these mutations also provides new data concerning the genetics of atopic asthma as well as intriguing insight into disease mechanisms of systemic allergies involving antigen exposure in skin with defective barrier function. Collectively, these novel findings have significant implications for the classification and future clinical management of patients with atopic and allergic diseases.
McGrath
John A
JA
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St. Thomas' School of Medicine, London, UK.
Uitto
Jouni
J
D001249:Asthma; D000091344:Filaggrin Proteins; D006801:Humans; D006967:Hypersensitivity; D007381:Intermediate Filament Proteins / Q000235:genetics / Q000276:immunology*; D012871:Skin Diseases / Q000209:etiology / Q000276:immunology*; D012879:Skin Physiological Phenomena / Q000276:immunology*
C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins