Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New gene for rheumatism identified

29.10.2002


A genetic variant that can explain the occurrence of a type of rheumatic disorder called SLE has been identified by a research team at Uppsala University, Sweden. The team, led by Associate Professor Marta Alarcón at the Rudbeck Laboratory, is presenting its finding in the latest issue of the scientific journal Nature Genetics.



Nearly 6,000 predominantly young women are victims of systemic lupus erythematosus, SLE. The disease is partly genetic and causes damage to the skin and various organs. The genetic variant in the gene PDCD1 was identified in families with at least two persons suffering from the ailment. Genetic analyses have shown that the part where the gene PDCD1 is located in chromosome 2 is implicated in the disease.

The research team has determined the position of the gene with still greater precision and has sequenced the whole gene. They found several variants, but only one of them repeatedly turned up in the family members with the sickness. In order to make certain that the variant is associated with the ailment, the team studied nearly 2,500 individuals including families in the US. The variant is found in some of the patients and can explain one of the mechanisms behind the development of the disease. The genetic variant in the PDCD1 gene can modify the normal function and expression of the gene, but it is still unclear exactly how.


However, the discovery of this variant makes it possible to move on and examine how various combinations of genes work together to cause the illness. The discovery of this gene variant for SLE is, after a gene variant for Crohn’s disease, the second in the world to be identified for a so-called autoimmune disorder, that is, a disease in which cells from the immune defense produce antibodies to attack the body’s own tissues. It is also one of the few variants to be identified for what are called complex diseases, that is, diseases like heart attacks, high blood pressure, and schizophrenia.

The discovery reported by the research team at Uppsala can improve genetic diagnostics in the future and can contribute to the creation of better therapies for victims of the disorder.

Jon Hogdal | alfa
Further information:
http://www.uu.se

More articles from Health and Medicine:

nachricht Organ-on-a-chip mimics heart's biomechanical properties
23.02.2017 | Vanderbilt University

nachricht Researchers identify cause of hereditary skeletal muscle disorder
22.02.2017 | Klinikum der Universität München

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: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>