Corporate Banner
Satellite Banner
Molecular & Clinical Diagnostics
Scientific Community
Become a Member | Sign in
Home>News>This Article

Rare Skin Disease Gene Uncovered

Published: Monday, October 15, 2012
Last Updated: Monday, October 15, 2012
Bookmark and Share
A new gene and the way it works has been identified as a factor in a skin disease which affects thousands of people in the UK.

An international research team led by Professor Irwin McLean at the University of Dundee found that the `p34 gene’ played a key role in causing the disease punctate PPK, which gives sufferers dots of hard, thickened skin which can cause pain and discomfort.
The results of the research are published in the journal Nature Genetics.
“We have not only found this gene but we have been able to figure out how it works, which is very important,” said Professor McLean, who is Professor of Human Genetics in the Centre for Dermatology and Genetic Medicine at Dundee. “When the gene is disrupted or knocked out, the cells in the skin grow too fast and this results in these hard, thick, painful lesions which can be quite debilitating. When the gene is working properly then the skin forms normally.
“Knowing about this gene and what it does makes it easier for us to diagnose this form of skin disease and look towards developing new therapies. The pathway where this gene functions is a possible drug target although it will need more work to identify how we can take advantage of that.”
Punctate PPK is one of a whole family of PPK skin diseases, each of which are relatively rare. Punctate PPK is estimated to affect around 1 in every 15,000 people in the UK.
The gene discovery was made possible by use of next generation sequencing technology, which allows researchers to screen large amounts of genome data in a short space of time.
“This is a notable step forward in diagnosing skin diseases and the genetic causes behind them as this is research that we simply could not have done just a few years ago, We are now able to spot faulty genes and track their behaviour far more effectively,” said Professor McLean.
“The technology is making a huge difference and it will, in time, help to deliver significant results with benefits for patients with diseases like this one.”
The research team involved contributors at the Farhat Hached University Hospital in Tunisia; the University of Cambridge; NHS in Scotland; Our Lady’s Children’s Hospital, Dublin; Trinity College Dublin; Hokkaido University, Japan; Nagoya University Graduate School of Medicine, Japan; Otsu Municipal Hospital, Japan; Hiratsuka Municipal Hospital, Japan; the Institute of Medical Biology, A*STAR, Singapore; St. Thomas’ Hospital, London; King’s College London; and the National University of Singapore.

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,600+ scientific posters on ePosters
  • More than 3,800+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Scientific News
Sniffing Out Cancer
Scientists have been exploring new ways to “smell” signs of cancer by analyzing what’s in patients’ breath.
New Test Detects All Viruses
A new test detects virtually any virus that infects people and animals, according to research at Washington University School of Medicine in St. Louis, where the technology was developed.
Scientists Create World’s Largest Catalog of Human Genomic Variation
An international team of scientists from the 1000 Genomes Project Consortium has created the world’s largest catalog of genomic differences among humans, providing researchers with powerful clues to help them establish why some people are susceptible to various diseases.
Chip-Based Technology Enables Reliable Direct Detection of Ebola Virus
Hybrid device integrates a microfluidic chip for sample preparation and an optofluidic chip for optical detection of individual molecules of viral RNA.
Diagnostics Breakthrough Brings Viral Sequencing to Doctors’ Toolkit
New screening tool produces up to 10,000-fold improvement in viral matches compared with traditional high-throughput methods.
New Cell Type May Help Explain Dangerous Food Allergies
Researchers have discovered a new cell type that appears to drive life-threatening food allergies and may help explain why some people get severe allergic reactions and others do not.
Molecular Diagnostics At Home
Electrochemical test's sensing principle may be generalized to many different targets, leading to inexpensive devices that could detect dozens of disease markers in less than 5 minutes.
DNA Alterations as Among Earliest to Occur in Lung Cancer Development
Genetic footprints of precancer detectable in some blood samples.
New, Improved Approach To Mammograms
Detecting breast cancer in women with dense mammary tissues could become more reliable with a new mammogram procedure that researchers have now tested in pre-clinical studies of mice.
Undiagnosed Diseases Network Launches Online Application Portal
UDN Gateway enables patients to apply to national network of clinical sites.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,600+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos