Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene responsible for severe congenital skin disease, Harlequin Ichthyosis, identified by Queen Mary team

11.03.2005


The genetic cause of the devastating skin disease Harlequin Ichthyosis has been discovered by a team at Barts and the London, Queen Mary’s School of Medicine and Dentistry.



In a paper to be published online in April in the American Journal of Human Genetics, Professor David Kelsell, of Queen Mary’s Centre for Cutaneous Research, outlines the recent breakthrough. Harlequin Ichthyosis (HI) is a rare, life threatening condition, where babies are born covered in a thick ‘coat of armour’. The skin dries out to form hard diamond shaped plaques, severely restricting their movement.

Historically, these babies usually die within two days of birth, due to feeding problems, bacterial infection and/or respiratory diseases. But a number of patients now survive, thanks to the wider availability of neonatal care, and developments in treatment. Prof Kelsell said: “The search for the genetic cause of HI has taken more than seven years, with groups in the UK, Japan and US finding the classical linkage analysis techniques unsuccessful. This is largely down to the lethal nature of the condition and the small size of families with the condition. Our breakthrough came from applying SNP array technology.”


The relatively new SNP or ‘Snip’ array technology has made searching for disease genes a much quicker and cheaper process - one which enabled Kelsell and his team to identify the HI gene in a matter of weeks.

SNPs, or single nucleotide polymorphisms, are common but minute variations in the DNA sequence; they occur when just one of the four letters that make up the code swaps places. Each array is the size of a fingernail, and contains over 10,000 of these different SNPs. Identifying an SNP which is consistently inherited with a disease can help point researchers to the ‘linked’ gene that may be ultimately responsible for the condition.

Professor Kelsell’s team looked at individuals from twelve families who are affected with HI; three from the USA; seven from the UK and two from Italy – all from diverse ethnic backgrounds. Using SNP array technology, they were able to pinpoint the area of code responsible for HI, and discovered mutations in the ABCA12 gene that maps in this area, in 11 of the 12 patients studied. Harlequin Ichthyosis affects a number of families in the UK; four children affected by HI, and Professor Kelsell’s discovery, will be the subject of an ITV documentary; Real Lives: the Harlequin Sisters, to be broadcast later this year.

HI is thought to be caused by a defect in the way lipids (fats) are transported and discharged into the top layers of the skin. Normally, tiny spherical grains called lamellar granules migrate upwards through the skin, depositing lipids into the intercellular spaces of the skin’s uppermost layer. These lipids act as a protective barrier against bacteria and infection.

In patients with HI, these lamellar granules are formed abnormally; the ABCA12 gene may play a critical role in their formation, explaining the defects in the epidermal barrier seen in this disorder.

Until now, pre-natal screening tests for HI were often unreliable and inconclusive, involving risky, invasive procedures such as foetal skin biopsies. Professor Kelsell added: “By identifying ABCA12, our team has provided the molecular clue towards understanding the numerous biological abnormalities seen in HI skin, and established the means for early prenatal DNA diagnosis of HI.” The team’s next step will be to investigate the role of ABCA12 in the skin with financial support from BDF: Newlife.

Sian Wherrett | alfa
Further information:
http://www.ajhg.org
http://www.qmul.ac.uk

More articles from Life Sciences:

nachricht Newly designed molecule binds nitrogen
23.02.2018 | Julius-Maximilians-Universität Würzburg

nachricht Atomic Design by Water
23.02.2018 | Max-Planck-Institut für Eisenforschung GmbH

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Attoseconds break into atomic interior

A newly developed laser technology has enabled physicists in the Laboratory for Attosecond Physics (jointly run by LMU Munich and the Max Planck Institute of Quantum Optics) to generate attosecond bursts of high-energy photons of unprecedented intensity. This has made it possible to observe the interaction of multiple photons in a single such pulse with electrons in the inner orbital shell of an atom.

In order to observe the ultrafast electron motion in the inner shells of atoms with short light pulses, the pulses must not only be ultrashort, but very...

Im Focus: Good vibrations feel the force

A group of researchers led by Andrea Cavalleri at the Max Planck Institute for Structure and Dynamics of Matter (MPSD) in Hamburg has demonstrated a new method enabling precise measurements of the interatomic forces that hold crystalline solids together. The paper Probing the Interatomic Potential of Solids by Strong-Field Nonlinear Phononics, published online in Nature, explains how a terahertz-frequency laser pulse can drive very large deformations of the crystal.

By measuring the highly unusual atomic trajectories under extreme electromagnetic transients, the MPSD group could reconstruct how rigid the atomic bonds are...

Im Focus: Developing reliable quantum computers

International research team makes important step on the path to solving certification problems

Quantum computers may one day solve algorithmic problems which even the biggest supercomputers today can’t manage. But how do you test a quantum computer to...

Im Focus: In best circles: First integrated circuit from self-assembled polymer

For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.

In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Basque researchers turn light upside down

23.02.2018 | Physics and Astronomy

Finnish research group discovers a new immune system regulator

23.02.2018 | Health and Medicine

Attoseconds break into atomic interior

23.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>