Publication: Loricrin and human skin diseases: molecular basis of loricrin keratodermas
Loading...
Date
1998
Authors
Ishida-Yamamoto, A. ; Takahashi, H. ; lizuka, H.
item.page.secondaryauthor
item.page.director
Publisher
Murcia : F. Hernández
publication.page.editor
publication.page.department
DOI
item.page.type
info:eu-repo/semantics/article
Description
Abstract
The cornified cell envelope (CE) is a tough
structure formed beneath the plasma membrane of
terminally differentiated keratinocytes. Recent progress
in understanding the molecular organization of the CE
has disclosed the complex, yet orderly structure that
functions as a protective barrier against the environment.
We have recently demonstrated that two inherited skin
diseases, Vohwinkel's syndrome (VS) and progressive
symmetric erythrokeratoderma (PSEK) may result from
mutations in the gene encoding loricrin, a major
constituent of the CE. In adult human epidermis, loricrin
is diffusely distributed within the superficial granular
cells. In the cornified cells, loricrin is associated with
CEs. In some patients with VS and PSEK skin, however,
granular cells contain many intranuclear granules which
are labeled with an amino-terminal loricrin antibody.
CEs are thinner than normal and sparsely labeled with
the loricrin antibody. Parakeratotic cornified cells
contain loricrin-positive granules. Sequencing of the
loricrin gene has disclosed heterozygous mutations;
insertion of one nucleotide (730insG, 709insC) that
shifts the reading frame in these patients. Consequently
the carboxyl-terminus are replaced by highly charged
missense sequences that override the endogeneous
termination codon extending the protein with an
additional 22 amino acids. Elucidation of the molecular
biology of "loricrin keratodermas" adds to our
understanding of the complexity and biological
significance of the CE.
publication.page.subject
Citation
item.page.embargo
Ir a Estadísticas
Sin licencia Creative Commons.