Protein discovery sheds light on autoimmune diseases

The immune system is made up of a collection of mechanisms that protect our bodies from disease and infection. But if you have an autoimmune disease, your own immune system attacks itself by mistake. Many parts of the body can be affected by these diseases, including nerves, muscles, and the endocrine and digestive systems. Autoimmune diseases are the third leading cause of morbidity and mortality in the industrialised world and are only surpassed by cancer and heart disease. Now scientists working on an EU-funded project have identified a protein, which they say will lead to new ways of understanding and treating these autoimmune diseases.

The three-year EurAPS project is funded under the 'Life Sciences, genomics and biotechnology for health' thematic area of the Sixth Framework Programme (FP6). Bringing together 16 partners from across Europe, as well as Australia and Hong Kong, the project studied a rare genetic disorder of early childhood called Autoimmune polyendocrine syndrome type I (APS-1). The findings are published in the New England Journal of Medicine.

APS-1 is a hereditary disease caused by mutations in a single gene called autoimmune regulator (AIRE). The mutation causes the immune system to produce auto-antibodies, which are then directed against one or more of the body's proteins. APS-1 patients can have a wide range of symptoms. These symptoms include hypocalcemia from the destruction of the parathyroid glands and Addison's disease from the destruction of the adrenal glands. In addition, those with the disease can also develop mucosal and skin infections with candida yeasts.

The researchers in the EurAPS project have now identified one of the proteins that comes under attack by the disease. Dubbed NALP5, this protein is the target for the immune system's attacks on the parathyroid glands. The parathyroid glands are small endocrine glands in the neck, usually located behind the thyroid gland. They produce parathyroid hormone, which helps raise the concentration of calcium in the blood. The glands maintain the body's calcium level within a very narrow range, so that the nervous and muscular systems can function properly. When the blood calcium levels drop below a certain point, calcium-sensing receptors in the parathyroid gland are activated to release the hormone into the blood.

In patients with APS-1, the parathyroid glands can be knocked out at a very young age. This can lead to severe cramp attacks caused by the calcium imbalance, which are often hard to treat using regular treatment. If the disease is not discovered it can possibly lead to death. This new discovery is expected to allow an early diagnosis of the condition, so that young sufferers can receive the proper treatment.

The fact that the protein NALP5 was found in the parathyroid glands is expected to provide scientists with a more complete understanding of the function of these glands. In addition, the latest discovery increases the possibility of developing drugs and methods of treatment for those diseases which produce a calcium imbalance, for example osteoporosis.

The fact that the protein functions as a target for the immune cells in humans, but also in animal models with the same genetic defect, is good news for further research into the disease. "This means now, for the first time, in an experimental situation we will be able to compare the immune defense with exactly the same target protein in humans and in an animal model," says Mohammad Ali Mohammadi at the Department of Medical Sciences, Uppsala University, who made the discovery.

For further information, please visit:
http://apeced.net/

Copyright ©European Communities, 2008
Neither the Office for Official Publications of the European Communities, nor any person acting on its behalf, is responsible for the use, which might be made of the attached information. The attached information is drawn from the Community R&D Information Service (CORDIS). The CORDIS services are carried on the CORDIS Host in Luxembourg - http://cordis.europa.eu. Access to CORDIS is currently available free-of-charge.

Most Popular Now

Pfizer and BioNTech complete submission to Europea…

Pfizer Inc. (NYSE: PFE) and BioNTech SE (Nasdaq: BNTX) today announced they have completed a submission to the European Medicines Agency (EMA) for an Omicron-adapted biva...

Lilly will supply an additional 150,000 doses of b…

Eli Lilly and Company (NYSE: LLY) announced a modified purchase agreement with the U.S. government to supply an additional 150,000 doses of bebtelovimab for approximately...

Bayer to sell men's health product Nebido™ to Grün…

Bayer and Grünenthal have entered into a definitive agreement regarding the sale of Bayer's men's health product Nebido™ (testosterone undecanoate), for a purchase price ...

AstraZeneca to acquire TeneoTwo and its clinical-s…

AstraZeneca announced an agreement to acquire TeneoTwo, Inc. (TeneoTwo)i, including its Phase I clinical-stage CD19/CD3 T-cell engager, TNB-486, currently under evaluatio...

Demonstration of a potent, universal coronavirus m…

The SARS-CoV-2 that causes COVID-19 has killed 6.3 million people worldwide since 2019, painfully highlighting the vulnerability of humanity to novel coronaviruses. Re...

The fourth COVID-19 vaccine reduces the risk of de…

A new study by Tel Aviv University and Ben Gurion University of the Negev, in collaboration with the Israeli Ministry of Health, has found that the fourth COVID-19 vaccin...

Vaccine protection against COVID-19 short-lived, b…

Since COVID-19 vaccines first became available to protect against infection and severe illness, there has been much uncertainty about how long the protection lasts, and w...

Research shows investigational drug fosters nerve …

Scientists from the University of Birmingham have shown that a brain-penetrating candidate drug currently in development as a cancer therapy can foster regeneration of da...

NIH launches clinical trial of mRNA Nipah virus va…

The National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, has launched an early-stage clinical trial evaluating an inv...

Anti-inflammatory compound shows potential in trea…

An anti-inflammatory compound may have the potential to treat systemic inflammation and brain injury in patients with severe COVID-19 and significantly reduce their chanc...

Vaccine-induced immune response to omicron wanes s…

Although COVID-19 booster vaccinations in adults elicit high levels of neutralizing antibodies against the Omicron variant of SARS-CoV-2, antibody levels decrease substan...

SARS-CoV-2 hijacks nanotubes between neurons to in…

COVID-19 often leads to neurological symptoms, such as a loss of taste or smell, or cognitive impairments (including memory loss and concentration difficulties), both dur...