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 What happens in the cell nucleus after fertilization
06.12.2016 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht Researchers uncover protein-based “cancer signature”
05.12.2016 | Universität Basel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Simple processing technique could cut cost of organic PV and wearable electronics

06.12.2016 | Materials Sciences

3-D printed kidney phantoms aid nuclear medicine dosing calibration

06.12.2016 | Medical Engineering

Robot on demand: Mobile machining of aircraft components with high precision

06.12.2016 | Power and Electrical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>