Analysis of keratinocyte involucrin, lipid envelops and TGM1 gene in patients with congenital lamellar ichthyosis

作者：Zheng Naigang; Zhang Chengyang; Wu Jinglan^*; Li Hongwen; Wang Yiling; Zhang Qinxian

来源：Life Science Journal-Acta Zhengzhou University Overseas Edition, 2009, 6(1): 5-12.

• nail SDS-PAGE
• involucrin envelope
• epidermal scale lipids
• TGM 1 sequencing
• lamellar ichthyosis

Background. The congenital lamellar ichthyosis (LI) patients display defective keratinocyte ( KC) envelops associated with TGM1 gene mutation, while analysis of them has been scarcely found. Objective. To explore the defective phenotype of KC involucrin and lipid envelopes detected in LI nail/scale samples. Methods. The trimmed nails and scraped scales were collected from 10 autosomal congenital ichthyosis (ACI) cases: five of them were recessive LI patients, the rest five patients were dominant ichthyosis vulgaris (IV) as patient control ( PC), and 10 healthy volunteers as the normal control (NC) group. The TGM 1 gene was sequenced in two individual LI patients from separate families. The extracted nail protein of the LI and IV cases was analyzed by SDS-PAGE and involucrin-immunoblotting. The involucrin immunostaining was performed on nail sections of extracted cross-linking protein and the scale spread slides; the histochemical lipid reactivity was examined on the scale spread slides. Results. In SDS-PAGE there were four major bands found in the NC group, while there were five major bands, including an additional major band of 69 kDa in the LI/IV patient group, especially distinct in LI cases. The involucrin expression was attenuated and the lipid reactivities, including phospholipid, cholesterol and unsaturated fatty acid in histochemistry, were decreased on the LI scale spread slides. The TGM1 gene sequencing showed that a frameshift mutation in Exon 3 and some point mutations in Exon 8, 12 and 13 were found in LI cases. Conclusion. The overexpression of 69 kDa and impaired envelopes may be potential biomarker associated with TGM1 problem for LI patients. [Life Science Journal. 2009; 6(1): 5 - 12] (ISSN: 1097 - 8135).

• 出版日期2009
• 单位郑州大学