In:
eLife, eLife Sciences Publications, Ltd, Vol. 4 ( 2015-07-23)
Abstract:
Porokeratosis refers to a group of around twenty skin conditions that involve a build-up of a protein called keratin in skin cells. Keratin forms the tough fibres that give strength to hair and nails, and people suffering from porokeratosis develop hardened skin lesions. Porokeratosis is an uncommon condition; most cases are inherited and have been linked to exposure to ultraviolet light and having a weakened immune system. Mutations in one gene called MVK are known to cause two forms of the disorder, but it is suspected that other genetic causes of porokeratosis will also be identified. The MVK gene encodes an enzyme that is involved in making chemicals called isoprenoids. This large and diverse class of chemicals provides the building blocks for making many other important molecules in all living species. Zhang, Li et al. have now analysed genetic material from 134 different porokeratosis patients to search for mutations in other genes involved in the production of isoprenoids. The patients examined include 61 people with a family history of the disorder, and 73 cases in which the condition seems to be a one-off occurrence. This search identified mutations in three additional genes (called PMVK , MVD and FDPS ) that are all linked to porokeratosis. Further analysis of these three genes and MVK revealed that about half of the patients with mutations in the MVK gene developed large lesions (that were over 5 centimetres in diameter). However, those with mutations in the other three genes did not develop such large lesions. Mutations in some of the newly identified genes were instead linked to porokeratosis affecting specific areas of the body; for example, PMVK and MVD mutations are linked to porokeratosis localized to the genitals and around the eyes, respectively. This means that, in the future, doctors might be able to simplify the diagnosis of the different varieties of porokeratosis based on information gained via genetic tests.
Type of Medium:
Online Resource
ISSN:
2050-084X
DOI:
10.7554/eLife.06322.001
DOI:
10.7554/eLife.06322.002
DOI:
10.7554/eLife.06322.003
DOI:
10.7554/eLife.06322.004
DOI:
10.7554/eLife.06322.005
DOI:
10.7554/eLife.06322.006
DOI:
10.7554/eLife.06322.007
DOI:
10.7554/eLife.06322.008
DOI:
10.7554/eLife.06322.009
DOI:
10.7554/eLife.06322.010
DOI:
10.7554/eLife.06322.011
DOI:
10.7554/eLife.06322.012
DOI:
10.7554/eLife.06322.013
DOI:
10.7554/eLife.06322.014
DOI:
10.7554/eLife.06322.015
DOI:
10.7554/eLife.06322.016
DOI:
10.7554/eLife.06322.017
DOI:
10.7554/eLife.06322.018
DOI:
10.7554/eLife.06322.019
Language:
English
Publisher:
eLife Sciences Publications, Ltd
Publication Date:
2015
detail.hit.zdb_id:
2687154-3