C-type lectins and human epithelial membrane protein1: Are they new proteins in keratin disorders?

Nilüfer Karadeniz,Thomas Liehr,Ibrahim Aşık,Nadezda Kosyakova,Zuleyha Aşık,Hasmik Mkrtchyan,Kristin Mrasek

doi:10.4236/ojgen.2013.34029

Abstract

Here we report a family with a clinical spectrum of Pachyonychia Congenita Tarda (PCT) encompassing two generations via a balanced chromosomal translocation between 4q26 and 12p12.3. We discuss the effects of chromosomal translocations on gene expression through involved breakpoints and structural gene abnormalities detected by array CGH. We believe that the family we present gives further insight to the better understanding of molecular and structural basis of keratin disorders, and to the late onset and genetic basis of PCT through the possible role of C-type lectins and human epithelial membrane protein1 (EMP1). Better understanding of the molecular basis of keratin disorders is the foundation for improved diagnosis, genetic counseling and novel therapeutic approaches to overcome the current treatment limitations related to this disease.

Highlights

Humans encode keratins in 54 genes, and of these 28 are localized at 17q12-21 as acidic type I and as basic type II at 12q13.13
We believe that the family we present gives further insight to the better understanding of molecular and structural basis of keratin disorders, and to the late onset and genetic basis of Pachyonychia Congenita Tarda (PCT) through the possible role of C-type lectins and human epithelial membrane protein1 (EMP1)
There are around 30 keratin families divided into two groups, namely, acidic and basic keratins, which are arranged in pairs

Summary

Introduction

Humans encode keratins in 54 genes, and of these 28 are localized at 17q12-21 as acidic type I and as basic type II at 12q13.13 Mutations within those genes are associated with tissue specific “fragility disorders’’ which may manifest both on the skin and mucosa depending on their expressions. One of these is Pachyonychia congenita (PC) seen in three forms as PC-1, PC-2, and Pachyonychia. Pachyonychia Congenita Tarda (PCT) is characterized by nail changes appearing during the second or third decades of life. The reasons behind the late onset of PCT in some patients as well as the exclusive involvement of the nails are not yet fully understood (Bahhady et al, 2008)

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Conclusion