Public Vote to Name Human Gene Launched

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A public vote to name a human gene that controls inflammation and tissue damage in rheumatoid arthritis (RA) and other inflammatory diseases has been launched.

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Known up to now as C5orf30, it has been shown by researchers at the Centre for Arthritis Research, UCD, and the Universities of London and Sheffield to be involved in “conducting” the body’s immune response. C5orf30 stands for Chromosome 5, open reading frame 30; meaning the thirtieth gene on the fifth biggest DNA chromosome.

The researchers looked at C5orf30 in severely affected joints of people who were newly diagnosed with rheumatoid arthritis. They found less of it in more inflamed joints. They were also able to show that it inhibits inflammation caused by tissue damage.

Naming human genes is regulated by the Human Genome Organisation (HuGO) and follows strict guidelines. Following the team’s latest research, which has just been published in The Journal of Immunology, the public has an opportunity to choose a proper name for C5orf30. The winning name will be forwarded to HuGO. The three choices are:

  • MACIR: Macrophage Immunometabolism Regulator
  • ROMIR: Regulator of Macrophage-mediated Inflammation Resolution
  • TICI: Tissue Inhibitor of Catabolism and Inflammation

What's in a name box 

People can cast their votes on the Arthritis Ireland and the UCD Centre for Arthritis Research websites: www.arthritisireland.ie and www.ucd.ie/car. Voting is open until 5pm on Friday 8 March. 

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According to Dr Emma Dorris, lead researcher, “This is an exciting opportunity for people to play a small part in science history. The C5orf30 protein is found in all animals with a backbone, but no one knew what it did. Our research involved figuring this out and how it acts. Asking the public to choose its name continues the vital contribution which patients have made to this research, by donating their samples to the Arthritis Research Coalition biobank in Ireland and to the Pathobiology of Early Arthritis Cohort in the UK.”

The immune system acts as a response to infection, but it is also crucial for the normal growth and replenishment of the cells in the body. The research team looked at a type of immune cell, called a macrophage.

“These are like conductors of an orchestra: they tell the other immune cells when to fight infection, but also when to turn off ‘fight’ mode and to turn on ‘healing’ mode,” explained Dr Dorris. “Therefore, when they stop working properly, the whole immune system can go out of tune.

“This happens in many autoimmune diseases, including rheumatoid arthritis. We previously found a difference in the DNA of people living with rheumatoid arthritis compared to those without it. We showed that people with this difference made less C5orf30 in their macrophages,” she stated.

Prof. Gerry Wilson, head of the UCD Centre for Arthritis Research, said this new study is important because “By figuring out how this interesting little protein works, we will better understand the fine-tuning of the immune system and how to bring it back into harmony when it gets out of tune. It’s far too early to tell if this will lead to a new drug for rheumatoid arthritis and other autoimmune diseases, but that is a possibility.

“We are currently investigating what happens when we increase C5orf30 – does it make cells less likely to always want to ‘fight’ when they shouldn’t, and encourage them to ‘heal’? How do we best do this? Can we control it? These are the questions we need to answer to know if C5orf30 can directly be used in new therapies to improve the treatment of rheumatoid arthritis and other inflammatory diseases,” he concluded.

Gráinne O’Leary, Chief Executive of Arthritis Ireland, welcomed the latest research. “Rheumatoid arthritis affects 45,000 people in Ireland, 70% of them women. This is a chronic disease that can impact on every aspect of life: physical and mental well-being, relationships, career, social life. Through investing in research such as this, Arthritis Ireland is helping us draw closer to the day when people will be free from the pain of arthritis,” Ms O’Leary stated.

“Important findings like this, and the fantastic opportunity to name a ‘new’ gene really demonstrate the importance of research and collaboration,” said Dr Darrin Morrissey, Chief Executive at the HRB. “We are delighted that through the HRB and the Medical Research Charities Group awards scheme we can play a part in supporting research that helps to better understand the causes and mechanisms of disease and brings the hope of finding new treatments to people.”

This research is supported by Arthritis Ireland and the Health Research Board (under the Medical Research Charities Group-Health Research Board grant), and the Irish Research Council.

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