Conflict of interest The authors declare that they had no conflict of interest.
Impact of filaggrin mutations on Raman spectra and biophysical properties of the stratum corneum in mild to moderate atopic dermatitis
Article first published online: 4 AUG 2011
© 2011 The Authors. Journal of the European Academy of Dermatology and Venereology © 2011 European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology
Volume 26, Issue 8, pages 983–990, August 2012
How to Cite
Mlitz, V., Latreille, J., Gardinier, S., Jdid, R., Drouault, Y., Hufnagl, P., Eckhart, L., Guinot, C. and Tschachler, E. (2012), Impact of filaggrin mutations on Raman spectra and biophysical properties of the stratum corneum in mild to moderate atopic dermatitis. Journal of the European Academy of Dermatology and Venereology, 26: 983–990. doi: 10.1111/j.1468-3083.2011.04198.x
Funding sources The study was funded by CE.R.I.E.S.
- Issue published online: 18 JUL 2012
- Article first published online: 4 AUG 2011
- Received: 1 February 2011; Accepted: 7 July 2011
Background Atopic dermatitis (AD) is associated with null mutations in the filaggrin (FLG) gene.
Objective To assess the impact of FLG null mutations on biophysical properties and the molecular composition of the stratum corneum (SC) in healthy individuals and AD patients.
Methods A total of 196 French adults, including 97 with a history of mild to moderate AD, were genotyped for the three major European FLG mutations. Components of the natural moisturizing factor (NMF), lipids and water content in the SC were determined using Raman spectroscopy. In addition, trans-epidermal water loss, capacitance and pH of the SC were measured.
Results Stratum corneum concentrations of total NMF, water, ornithine and urocanic acid (UCA) were significantly lower in AD patients than in healthy controls. Null mutations of FLG were detected in 4% of controls and 10% of AD patients. FLG mutations were associated with increased SC levels of lactate, reduced concentrations of most other NMF components and higher disease severity in AD patients. In AD patients without FLG mutations, the content of NMF constituents decreased with increasing disease severity. The concomittant presence of low concentrations of histidine, alanine and either glycine or pyrrolidone-5-carboxylic acid (PCA) in the SC was associated with FLG mutations with 92% specificity.
Conclusions Our findings suggest a low prevalence of FLG mutations in mild AD and support an important role for filaggrin in determining the physicochemical parameters of the SC. The combined measurement of several filaggrin breakdown products in the SC may be useful to specifically predict the presence of FLG mutations.