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 Making fuel out of thick air
08.12.2017 | DOE/Argonne National Laboratory

nachricht ‘Spying’ on the hidden geometry of complex networks through machine intelligence
08.12.2017 | Technische Universität Dresden

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Scientists channel graphene to understand filtration and ion transport into cells

Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.

To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...

Im Focus: Towards data storage at the single molecule level

The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.

Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...

Im Focus: Successful Mechanical Testing of Nanowires

With innovative experiments, researchers at the Helmholtz-Zentrums Geesthacht and the Technical University Hamburg unravel why tiny metallic structures are extremely strong

Light-weight and simultaneously strong – porous metallic nanomaterials promise interesting applications as, for instance, for future aeroplanes with enhanced...

Im Focus: Virtual Reality for Bacteria

An interdisciplinary group of researchers interfaced individual bacteria with a computer to build a hybrid bio-digital circuit - Study published in Nature Communications

Scientists at the Institute of Science and Technology Austria (IST Austria) have managed to control the behavior of individual bacteria by connecting them to a...

Im Focus: A space-time sensor for light-matter interactions

Physicists in the Laboratory for Attosecond Physics (run jointly by LMU Munich and the Max Planck Institute for Quantum Optics) have developed an attosecond electron microscope that allows them to visualize the dispersion of light in time and space, and observe the motions of electrons in atoms.

The most basic of all physical interactions in nature is that between light and matter. This interaction takes place in attosecond times (i.e. billionths of a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Midwife and signpost for photons

11.12.2017 | Physics and Astronomy

How do megacities impact coastal seas? Searching for evidence in Chinese marginal seas

11.12.2017 | Earth Sciences

PhoxTroT: Optical Interconnect Technologies Revolutionized Data Centers and HPC Systems

11.12.2017 | Information Technology

VideoLinks
B2B-VideoLinks
More VideoLinks >>>