Category Archives: Research

Killer Immunoglobulin-like Receptor Genes

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This piece of research was undertaken by Ralph D. Levinson who is based in California, USA.   It is published in the Ocular Immunology Inflammation Journal 2011 Jun; vol. 19(3) pp. 192-2011.

The research looked at the function and genetics of killer immunoglobulin-like receptors (KIRs) and of KIR genetic associations within uveitis by reviewing a number of previously published studies.

This is an important piece of research, and although we are not scientists or researchers, we are attempting a layman’s explanation of KIRs here.

KIRs are proteins which are found on certain cells of the immune system.  The cells that KIR are found on are called natural killer cells (NK).  In essence, the KIRs enable the NK cells of the immune system to detect and attack certain viruses and tumours.   KIRs seem to differ between individuals and there is a genetic component to what type of KIRs you have.  There is a view that auto-immune types of uveitis may predominate in certain individuals with certain kinds of KIRs.

Ralph D Levinson reviewed all the publications and research relating to KIRs and uveitis, particularly Birdshot, Vogt-Koyanagi-Harada (VKH) disease, HLA-B27-associated acute anterior uveitis (AAU) and axial spondyloarthropathy.  He found evidence that Birdshot appears to have a high incidence of particular patterns of KIRs and he has suggested that this shows evidence of the implications of these KIRs in Birdshot.  He suggests further research into this subject.

This complex research contributes towards a better understanding of  what is actually happening when we get Birdshot Chorioretinopathy.  We hope that this increased understanding may be an important step along the path towards better treatment for us all.

Below, there is an abstract from the research findings, which those of you with better scientific knowledge than us may be able to understand better than us!

Source

Ocular Inflammatory Disease Center, Jules Stein Eye Institute and the Department of Ophthalmology, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles, California, USA.

Abstract

Purpose: to review the function and genetics of killer immunoglobulin-like receptors (KIRs) and studies of KIR genetic associations with uveitis. Methods: Review of published studies. Results: KIRs are receptors on NK and some T cells. They may inhibit or activate cellular function, such as cytotoxicity and cytokine production. Studies have been published examining KIR gene associations with birdshot chorioretinopathy (BCR), Vogt-Koyanagi-Harada (VKH) disease, and HLA-B27-associated acute anterior uveitis (AAU) and axial spondyloarthropathy. Evidence for increased activating and/or less inhibitory KIR and HLA gene combinations was found for BCR and VKH disease. In HLA-B27-associated disease, a trend toward decreased activation and stronger inhibition was found, except for the weakly inhibitory 3DL1 and Bw4(T80) combination. This latter combination was also found to confer risk in BCR. Conclusions: KIR genetics are complex, as are the functions of KIR-bearing cells. Nonetheless, evidence for KIRs in the pathogenesis of uveitis has been found.

The results of the study showed that  KIRs are receptors on NK and some T cells. They may switch off  or switch on cellular function, such as cytotoxicity and cytokine production. Studies have been published examining KIR gene associations with Birdshot Chorioretinopathy , as well as other types of uveitis.    Evidence for increased activating and/or less inhibitory KIR and HLA gene combinations was found for Birdshot Chorioretinopathy. and VKH disease. In HLA-B27-associated disease, a trend toward the opposite was found, except for the weakly inhibitory 3DL1 and Bw4T80 combination. This latter combination was also found to confer risk in Birdshot.

The conclusion was that  KIR genetics are complex, as are the functions of KIR-bearing cells. Nonetheless, evidence for KIRs in mechanism by which the disease is caused in uveitis has been established.

You can read more at: http://informahealthcare.com/doi/abs/10.3109/09273948.2010.538798

or at PMID: 21595535

URL – http://www.ncbi.nlm.nih.gov/pubmed/21595535?dopt=Citation

 

 

Interleukin-17 and pro-inflammatory cytokines in the aqueous humour of birdshot patients

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Dutch researchers from the University Medical Centre of Utrecht have reported a connection between raised intraocular levels of interleukin (IL)-17 and other immune mediators in birdshot chorioretinopathy (Kuiper, JJ et al. 2011).

Aqueous humour (AqH) and serum samples were taken from 16 patients with birdshot chorioretinopathy and these were compared to aqueous humour samples taken from 11 age-related cataract control patients. A multiplex immunoassay was performed on the samples to determine the levels of 23 different immune mediators (T-cell, pro-inflammatory and vascular-active mediators).

The results showed that the T-cell mediators interleukin IL-2 and IL-17, and the proinflammatory mediators IL-1β, IL-6 and tumour necrosis factor α, were significantly elevated in the aqueous humour samples from the birdshot patients compared with those from the control group. Also, the elevated aqueous humour levels of IL-1β, IL-17 and tumour necrosis factor α in the birdshot patients were higher than the levels in their serum samples. From these results, the researchers suggest the ‘novel concept’ that birdshot is an autoimmune inflammatory disease restricted to the eye and associated particularly with elevated IL-17 levels.

The link below goes to the article, which was published in 2011:

URL – http://www.ncbi.nlm.nih.gov/pubmed/21570674?dopt=Citation

 

 

How can we get hold of new medicines?

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Many of us with Birdshot will have experienced the difficulties of getting hold of medication that controls our Birdshot, if we don’t respond to the ‘usual’ medication regime of steroids and mycophenolate mofetil.  For many of us, we have had to get our consultants and GPs to apply to the relevant health agency (usually the Primary Care Trust that covers our area) for a ‘special circumstances hearing’.  Often, this takes months, only to be told, at the end of the process, that the PCT will not approve the medication regime we have applied for.

Well, help is at hand!  Not only is a ‘rare disease strategy’ being implemented across the UK in 2013, but also, the Genetic Alliance UK is currently looking at how we, with rare diseases, should get access to medications (none of which have been specifically licensed for our disease) and who should decide whether they are safe or not.

You can help.

The Genetic Alliance UK is now launching a recruitment campaign for an innovative and exciting research project about new medicines.

They want your views and your participation – It’s all about getting your views heard.  Below, we include a few more details about the project and how you can get involved.

Anyone interested in participating should visit the Genetic Alliance website for full information but here is a short summary:

New medicines: How should we weigh the risks and benefits? And who should do so?

Genetic Alliance are looking for people who are affected by a severe, rare or genetic condition, to take part in a Citizens’ Jury later this year. They are looking for up to 16 individuals to form a diverse jury that will deliberate a very important issue – the risks and benefits of new medicines. Not only will jurors get their voice heard in an innovative and high profile way, but they will be paid for their time too!

There is further information available about the project and how people can get involved on the Genetic Alliance UK website, including a short explanatory video clip and an online questionnaire for people to register their interest.

The aim is to generate as much awareness and interest in the project as possible! To  find out more please contact Project Officer, Amy Simpson (asimpson@glam.ac.uk) or Marketing Officer, Julian Walker (Julian@geneticalliance.org.uk).

 

Rea and Annie

 

 

 

AIN 457 Study – my personal experience

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P1250053Could this be the answer?

From a personal perspective, Nick tells his story about his experience on the Phase 3 Novartis AIN457 Study

“I’m really happy to bring some good news. I’ve been taking part in the Study of a new treatment for the last 6 months and it seems to be working. I’ve been off all other meds for 2 months now without any sign of a flair-up and my doctors agree that the new treatment seems to be controlling the disease.

AIN457 is a new drug in the final stage of trials to treat a number of different inflammatory conditions. It has been created by the Swiss company Novartis and is a fully human antibody to Interleukin 17a – a messenger in the immune system which is thought to be responsible for a number of auto-immune conditions including Birdshot. Continue reading →

Clinical Trials

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Recently Birdshot Uveitis Society registered on the NHS Choices site (this link takes you to the section about Uveitis) and I discovered a  link to a  list of on-going Clinical Trials.  I was quite excited at first until I realised how little appeared to be going on in the UK.

We are often asked about  clinical trials that are going on in the UK and also in the rest of the world. Sadly there are no clinical trials that relate specifically to birdshot, and hardly any current ones in the UK for uveitis.

Uveitis Information Group website has a whole section on clinical trials that you might like to read before even considering one. There is also a booklet published by the UK Clinical Research Collaboration which may be of interest to you.

Understanding Clinical Trials

Unintended effects of Statins

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Rea came across this piece of research, published in the BMJ last week, which highlights increased risk of liver/kidney damage and myopathy and cataracts from taking statins.  The research highlights some of the possible side effects of taking higher doses of statins.

As a result of this, Doctors are being urged to choose the lowest possible dose when they prescribe cholesterol lowering statins.

If you currently take statins  you may wish to review this with your GP and Ophthalmologist, discuss the benefits against the risks to find out if drug you are prescribed should be changed.

The link below takes you to the published paper.

http://www.bmj.com/cgi/content/full/340/may19_4/c2197#SEC1

Reasonable adjustment for VI at work?

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Following on  from Adrian’s article  entitled “Coming out at Work” about  the Disability at Work Act, we came across this piece of research being done by David Griffiths.  He is looking for visually impaired people who are prepared to be interviewed over the telephone and are  interested in helping out with his research on this topic.  If you are, he can be emailed at:-   d.griffith@btinternet.com. Continue reading →

Saffron

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We Promised to Re-Issue the Article on Saffron – here it is:

Saffron Improves Vision In AMD Patients

We read about this in the latest Vision Newsletter March 2010. It is interesting to see that some serious research is being done into the affect of Saffron on AMD.  A couple of our members have suggested that Saffron appears to have helped them but we had no idea that scientific research was being done. Continue reading →

Green Tea

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New Evidence That Green Tea May Help Fight Glaucoma and Other Eye Diseases

ScienceDaily (Feb. 20, 2010) — Scientists have confirmed that the healthful substances found in green tea — renowned for their powerful antioxidant and disease-fighting properties — do penetrate into tissues of the eye. Their new report, the first documenting how the lens, retina, and other eye tissues absorb these substances, raises the possibility that green tea may protect against glaucoma and other common eye diseases.

The whole article can be found by following this link.

http://www.sciencedaily.com/releases/2010/02/100218125520.htm