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

Scientists have identified a number of genes involved in Lupus, a devastating autoimmune disease, 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.

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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.

Emu Oil and Discoid Lupus, healing the skin

My wife, Cindi, has discoid lupus. For those who do not know what discoid lupus is, and many will not:

Discoid lupus erythematosus (DLE) is a chronic skin condition characterised by reddened and round scaly patches that tend to develop in sun-exposed areas such as the face and hands. Sometimes, extensive lesions can develop across other areas of the body including the neck and upper back. It is unclear whether discoid lupus is a separate disease or a milder version of systemic lupus erythematosus (SLE), which can affect any of the body’s organs or tissues.

Around five per cent of people with discoid lupus progress to develop SLE, and around 20 per cent of people with systemic lupus develop discoid lupus. There is no cure, but the skin lesions can be managed with medication, and by avoiding exposure to sunlight.

The reason I say many will not know is lupus is not a high profile disease. This saddens me, not only because my wife is effected, but because it also effects 1.5 million other US Citizens. Most of which are women.

Recently I read that event the National Institutes of Health seems to neglect this disease as well. The NIH only allocated $88 million dollars to research for lupus. This may sound like it is a lot, but it is not enough. For instance the number of people diagnosed with the HIV/AIDS virus is 1 million. One half a million less then those with lupus, yet the NIH allocated $2,981 BILLION! to the research of those diagnosed with the HIV/AIDS virus. Doesn't seem fair.

OK, off of my soap box.

Now for the better news.

Back late September, I found some interesting articles about the healing effects of emu oil on the skin. The emu is a bird indigenous to Australia and kind of like the Turkey here in the US. The oil of this bird penetrates 100% into the skin and has remarkable healing abilities.

One of the main findings in my research on emu oil is that it is very important to get the product that is made from the Australian bird. There are many emu products and some come from the US or Canada. It is not recommended that these products be used for the quality will differ from that of the 100% Australian emu oil.

What is there a difference in emu oils?
First, notice that I am not attempting to sell anything here. I am telling this in hope to help those that need help. The Australian emu oil has helped Cindi skin heal after severe discoid lupus flares.
The difference is oils is relatively easy to explain. Remember that I said the bird is indigenous to Australia. One thing of course is the climate that the bird is in along with many other factors of just being raised in the home environment of the animal.
Add to that, when the same bird is raised here in the states, the requirements of anti-biotic injections, chemicals and additives in the food, etc. It is just not the same. Not to mention the price is not a value when produced here.

That brings me to the "how to" on purchase. Forget local health stores. They have it, if you want to pay upwards to $19.00 for 2.oz! Plus it is rather difficult to find the 100% pure and in the Australian line. So I did a little more research on where to buy the emu oil product at a reasonable price. I found a forum on acne and learned how and where to buy the oil at the right price. Turns out the emu oil is very popular to help those with acne as well.

Reading the discussion of these acne inflicted teens, I found the best place to purchase emu oil is on eBay. On eBay you can find 100% Australian emu oil in a 2 .oz bottle for around $7.50. Big difference over the local health stores. You will want to buy a small portion of the oil at first. Like every other medicine or product, your outcome may differ. I hope that when you try it, that it will help you as it did my wife. Once you know that it works for you, it is cheaper to buy it in larger quantities.

Cindi and I hope that this will help others that have discoid lupus. If it does, please write and let us know.

You may want to read my other posts on lupus:

Brevard County Lupus Support Group

Herbal Medicine: Cindi’s Lupus Tea