Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genes linked with Lupus are revealed, giving hope for new treatments

21.01.2008
Scientists have identified a number of genes involved in Lupus, a devastating autoimmune disease that affects around 50,000 people in the UK, in new research published today in the journal Nature Genetics.

In an international genetic study of more than 3,000 women, researchers found evidence of an association between Lupus (systemic lupus erythematosus or SLE) and mutations in several different genes.

The findings, by scientists from Imperial College London and institutions in the USA and Sweden, will enable researchers to investigate the specific pathways and precise molecular mechanisms involved in developing Lupus, potentially opening up options for new therapies. Lupus is a complex condition, mostly affecting women, which frequently causes skin rash, joint pains and malaise, and which can also lead to inflammation of the kidneys and other internal organs.

The scientists discovered the strongest associations with Lupus in three genes: ITGAM, PXK, and one mutation within a gene KIAA1542, a gene whose function is not definitely known.

The ITGAM gene provides code for a molecule involved in a system, known as the complement system, which forms part of the body's immune response. Complement is a series of proteins in the blood which is designed to stick to the surface of bacteria and bugs in order to enable them to be attacked by the immune system.

The discovery of variations in the ITGAM gene in people with Lupus supports the idea that abnormalities in the way complement and antibodies bind to immune cells play a key part in the disease. It is already known that people with Lupus often have low levels of complement in their blood.

The role of the molecules encoded by the PXK gene and KIAA1542 genes in Lupus is less easy to predict, and the discovery of their association is more surprising to the researchers, opening up new avenues of research into the disease.

Other genes, including LYN and BLK, also appear to be involved in Lupus. These genes affect the function of B cells, which play a key role in the production of antibodies. Autoantibodies, which attack the body's own proteins, contribute to the damage done to the body in Lupus.

The new research also confirms links identified in previous studies between Lupus, as well as other autoimmune diseases, and certain other genes.

Professor Timothy Vyse, a Wellcome Trust Senior Fellow from the Division of Medicine at Imperial College London, and one of the authors of the study, said: "Lupus is a complex disease, which is hard to diagnose, and it can cause many different and unpredictable problems for patients. Living with Lupus can be really tough. We currently can treat the disease by suppressing the immune system, but we urgently need to understand in much more detail what goes wrong with the immune system so that we can design better treatments. This study represents a milestone in progress towards unravelling the secrets of the disease.

"We are continuing to work on refining these genetic studies. Blood samples from patients with Lupus have helped us already and we are very grateful to those who have given us samples. We always need more samples and would like to hear from anyone with Lupus who would like to help us by giving blood samples for this important research," added Professor Vyse.

The researchers reached their conclusions after comparing the genetic makeup of 720 women of European descent with Lupus and 2,337 women without Lupus. They looked at mutations in the building blocks, called nucleotides, which make up DNA.

There are mutations in around one in every 600 nucleotides and the scientists examined over 317,000 how many of these mutations to find those specific to Lupus. These mutations are known as single-nucleotide polymorphisms.

The researchers confirmed their results by comparing another set of genetic data for 1,846 women with Lupus and 1,825 women without Lupus.

The study was carried out by researchers in the International SLE consortium (SLEGEN), which includes scientists from the USA, Sweden and the UK. It was supported by the Alliance for Lupus Research and the National Institutes of Health.

Laura Gallagher | alfa
Further information:
http://www.wellcome.ac.uk
http://www.imperial.ac.uk

More articles from Health and Medicine:

nachricht Chronic stress induces fatal organ dysfunctions via a new neural circuit
21.08.2017 | Hokkaido University

nachricht New malaria analysis method reveals disease severity in minutes
14.08.2017 | University of British Columbia

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

Nagoya physicists resolve long-standing mystery of structure-less transition

21.08.2017 | Materials Sciences

Chronic stress induces fatal organ dysfunctions via a new neural circuit

21.08.2017 | Health and Medicine

Scientists from the MSU studied new liquid-crystalline photochrom

21.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>