Gene expression profiling in pachyonychia congenita skin.

ABSTRACT:

Background

Pachyonychia congenita (PC) is a skin disorder resulting from mutations in keratin (K) proteins including K6a, K6b, K16, and K17. One of the major symptoms is painful plantar keratoderma. The pathogenic sequelae resulting from the keratin mutations remain unclear.

Objective

To better understand PC pathogenesis.

Methods

RNA profiling was performed on biopsies taken from PC-involved and uninvolved plantar skin of seven genotyped PC patients (two K6a, one K6b, three K16, and one K17) as well as from control volunteers. Protein profiling was generated from tape-stripping samples.

Results

A comparison of PC-involved skin biopsies to adjacent uninvolved plantar skin identified 112 differentially-expressed mRNAs common to patient groups harboring K6 (i.e.,

SUBMITTER: Cao YA 

PROVIDER: S-EPMC4374015 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature