Corporate Banner
Satellite Banner
Genomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

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

Join For Free

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 3,200+ scientific posters on ePosters
  • More than 4,600+ 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 TechnologyNetworks.com 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.

Related Content

Putting The Brakes On Cancer
DUSP5 shown to suppress tumour formation by switching off ERK.
Monday, December 22, 2014
Molecular `On-Off’ Switch Discovered by Dundee Scientists
New molecular switch protects the brain from developing Parkinson’s disease.
Friday, May 25, 2012
Researchers Identify Skin Cancer Genes
The genes which contribute to the most frequently occurring life threatening form of skin cancer have been identified for the first time.
Thursday, November 10, 2011
DNA “Molecular Scissors” Discovered by Dundee Scientists
Newly found protein that helps to repair damaged DNA in our cells, could have major implications for cancer treatments.
Friday, July 09, 2010
€2million Grant to Investigate New Treatments for Skin Cancer and Genetic Diseases
A major research project at the University of Dundee to investigate new treatments for skin cancer and other skin diseases has attracted a grant of €2 million from the European Research Council.
Thursday, March 25, 2010
VISIONS OF DISCOVERY - From Bacteria to Brain Tumours, Chromosomes to Cancer Cells
Exhibition opens November 12th, Dalhousie Building, Old Hawkhill. A series of stunning images arising from biological and medical research form a new exhibition opening at the University of Dundee this week.
Tuesday, November 10, 2009
€1.7million Grant to Help Solve Maths Cancer Puzzle
Mathematicians at the University of Dundee have been awarded a major European grant of almost €1.7million to develop a virtual model of cancer growth and spread.
Monday, September 28, 2009
Scientific News
Benchtop Automation Trends
Gain a better understanding of current interest in and future deployment of benchtop automated systems.
Higher Frequency of Huntington's Disease Mutations Discovered
University of Aberdeen study shows that the gene change that causes Huntington's disease is much more common than previously thought.
Revealing the Genetic Causes of Bowel Cancer
A landmark study has given the most detailed picture yet of the genetics of bowel cancer — the UK's fourth most common cancer.
The Epigenetic Influences of Chronic Pain
Researchers at Drexel University College of Medicine are aiming to identify new molecular mechanisms involved in pain.
Fighting Resistant Blood Cancer Cells
Biologists present new findings on chronic myeloid leukemia and possible therapeutic approaches.
Tumor Cells Develop Predictable Characteristics
Scientists have discovered that cancer cells at the edge of a tumor that are close to the surrounding environment are predictably different from the cells within the interior of the tumor.
Mothers Obesity Could be Passed on in mtDNA
Obesity can predispose offspring in multiple generations to metabolic problems.
New Imaging Method Reveals Nanoscale Details about DNA
Enhancement to super-resolution microscopy shows orientation of individual molecules, providing a new window into DNA’s structure and dynamics.
Genetic Research Can Significantly Improve Drug Development
With drug development costs topping $1.2bn (£850 million) to get a single treatment to the point it can be sold and used in the clinic, could genetic analysis save hundreds of millions of dollars?
Naked Mole Rat Exhibits “Extraordinary” Cancer Resistance
Scientists are getting closer to understanding the anti-cancer mechanism of the naked mole rat by making induced pluripotent stem cells.
Skyscraper Banner

SELECTBIO Market Reports
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
3,200+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,600+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!