According to the research team, [...] No related posts.]]> Like all aspects of the development of the human body, genetics dictate each individual’s height. Last year a team of researchers identified the initial common gene that influences height. That same team has now identified 20 additional genetic regions that can collectively influence height differences of almost 2.5 inches.

According to the research team, 90% of the variation in height is a result of genetics. This is different than weight issues, such as obesity, which is a result of a mixture of environmental and genetic causes. That first height gene discovered last year is only responsible for less than a quarter of an inch.

The team from the Peninsula Medical School in Exeter and the University of Oxford studied DNA samples from over 30,000 people. These samples were obtained from the Wellcome Trust Case Control Consortium, the Cambridge Genetics of Energy Metabolism consortium and the CoLaus Study in Switzerland. From these samples the researchers discovered 20 loci, or regions of genetic code, which have an impact on the height.

One of these regions has been identified as an important factor in the development of osteoarthritis. This particular locus is thought to be involved in the growth of cartilage.

“There may be more than a hundred genes which affect our height, many of which will work in surprising or unpredictable ways,” according to Dr. Mike Weedon, lead author on the paper. “The challenge now for us is to understand how they influence growth in the body. This could open up new avenues for treating a range of diseases.”

Originally posted 2008-04-07 19:47:27. Republished by Blog Post Promoter

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Pharmaceutical company PharmaGenoma, through its subsidiary PsoriasisDx, has developed a genetic test to assist [...] No related posts.]]> Psoriatic arthritis is a joint disease developed by and estimated 20 to 40 percent of psoriasis patients. Detecting the disease in the early stages can provide an opportunity to administer treatments that can lessen the damage to the joints.

Pharmaceutical company PharmaGenoma, through its subsidiary PsoriasisDx, has developed a genetic test to assist doctors in identifying patients that are at risk for psoriatic arthritis before they show any symptoms. The company says that this is the first genetic test of its kind.

According to University of California, San Francisco (UCSF) Psoriasis expert Dr. John Koo,

“Until now, doctors have screened patients after the onset of the inflammatory arthritis. FDA approved medications for the treatment of psoriatic arthritis are most effective at controlling inflammation and arresting joint destruction, but are ineffective at reversing joint damage.”

The PsoriasisDX Genetic Test, which costs $399, uses a cheek swab to obtain the necessary genetic material. The sample is then sent for analysis to the PsoriasisDX laboratory which uses genetic sequencing to detect an immune response gene variant called MICA-A9. This gene variant is present in nearly 60 percent of psoriatic arthritis patients.

The relationship between MICA-A9 and psoriatic arthritis has been replicated by four peer-reviewed and published studies which involved over 900 patients from several ethnic populations.

If the PsoriasisDX Genetic Test shows positive results for the MICA-A9 variant, it means the patient has about a 60 percent chance of developing psoriatic arthritis. Alternatively, testing negative for MICA-A9 indicates that the patient has a 70 percent chance of not developing psoriatic arthritis.

It is hoped that testing for MICA-A9 will result in early detection of an increased risk of psoriatic arthritis and ensure that those patients who require intervention will receive them before inflammatory arthritis begins.

Originally posted 2009-12-21 07:00:32. Republished by Blog Post Promoter

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Normally, the kidneys remove uric acid from the blood and eliminate it in urine. But the kidneys in those with gout [...] No related posts.]]> Gout is a painful condition which results from high levels of uric acid in the blood. Over time the uric acid forms crystals in the joints which leads to inflammation, stiffness and pain.

Normally, the kidneys remove uric acid from the blood and eliminate it in urine. But the kidneys in those with gout do not keep up with the production of uric acid.

It has been believed that diets high in sugar, alcohol and protein lead to increased risk of gout. In fact, gout was known as the “Disease of Kings” due to its link to rich foods and alcohol.

This view may change as a result of a recent study of 12,000 people which revealed a genetic link to gout.

Scientists at the Medical Research Council Human Genetics Unit and the University of Edinburgh, along with researchers in Croatia, have found a gene variation that makes it harder for the body to remove uric acid from the blood.

That gene is responsible for coding a protein known as SLC2A9 which is responsible for transporting uric acid across the membranes of the kidney. Variations in the SLC2A9 gene cause some people to have higher levels of uric acid in the blood.

The researchers identified genetic variations in the SLC2A9 gene in different populations in Orkney, Tayside and Croatia. Further analysis has eliminated links between the genetic variations in SLC2A9 and increased risk of heart disease, obesity and elevated blood pressure.

Additional research in Germany demonstrated that the gene is associated with the capacity to remove uric acid from the body through urine.

The results of this study is published in the journal Nature Genetics.

Professor Alan Wright of the Human Genetics Unit, and one of the lead authors, says: “The discovery of this important new function for the SLC2A9 protein will aid the development of drugs which could lower blood uric acid levels and prevent or treat gout.”

Another lead author, Harry Campbell, Professor of Genetic Epidemiology and Public Health and the University of Edinburgh says: “This discovery may allow better diagnostic tools for gout to be developed.”

Originally posted 2008-03-31 19:06:43. Republished by Blog Post Promoter

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In addition, cells called macrophages (cells within the [...] No related posts.]]> Tumor necrosis factor (TNF) has been identified as having a key responsibility in many inflammatory diseases, including rheumatoid arthritis (RA). There has been substantial research into the early signaling pathways activated by TNF, but there is not much known about the delayed and chronic TNF responses.

In addition, cells called macrophages (cells within the tissues that originate from specific white blood cells) produce TNF, but the effect of TNF on the macrophages themselves is not understood.

But a study published March 16th in the online journal Nature Immunology, researchers disclose the discovery of a new mechanism involved in the development of inflammatory diseases. This new mechanism may also provide insight into problems in gene therapy experiments that use adenoviruses to deliver genes to humans.

This study utilized human blood and mice to assess macrophages responses for 2 days after being stimulated with TNF. The researchers found that macrophages secreted TNF and then the TNF activated surface receptors on the macrophages themselves which caused the cells into a low, continued production of the protein interferon-beta.

The interferon-beta acted with TNF signals to induce sustained production of genes encoding inflammatory molecules and delayed production of genes encoding interferon-response molecules.

“The striking thing about many of these genes that came to our attention first was that there were these classic interferon response genes which had previously not been associated with TNF,” said Lionel Ivashkiv, M.D., director of Basic Research at Hospital for Special Surgery, who led the study. “It suggests a new mechanism by which TNF can drive and sustain inflammation.”

According to Dr. Ivashkiv’s team, the results of this, and related studies, may lead to development of new treatments for preventing bone destruction that is linked with some diseases. “So, what it does is sets up the next series of studies, in animal models, to try to determine whether this induction of interferon is beneficial or not.”

Originally posted 2008-03-19 18:46:35. Republished by Blog Post Promoter

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AS is a form of [...] No related posts.]]> A global team of researchers, led by Professor Matthew Brown, from the University of Queensland’s Diamantina Institute for Cancer, Immunology and Metabolic Medicine, has discovered that there is a genetic relationship between ankylosing spondylitis (AS) and Crohn’s disease. The study was published in the current issue of Nature Genetics.

AS is a form of arthritis that causes inflammation in the joint of the vertebrae. This leads to pain and stiffness in the back and potentially bone erosion and fusion of bones in the spine. It can also damage other joints, the eyes and the heart.

The approach of the study was to determine if the genetic markers that are associated with AS could be treated by drugs that are already in development. The team of researchers scanned over 14 thousand genetic variants in the DNA of 2500 healthy and affected people. They found two genes, called ARTS1 and IL23R. In addition to the gene HLA-B27, which was identified 37 years ago to have a responsibility for the development of the disease, the ability exists to account for 70 percent of the overall cause of ankylosing spondylitis. This will enable doctors in the early identification of individuals that are at risk for development of the disease.

The report also states that at the current rate all of the genes that play a part in the development of ankylosing spondylitis should be identified in the next twelve months.

Another study has linked the IR23R gene to the development of Crohn’s disease, a debilitating inflammatory bowel disease. Discovery of the gene could explain why people with inflammatory bowel disease have tend to have a higher probability of developing AS. There are human trials already being conducted for treatment of Crohn’s disease that inhibits the activity of IL23R. The researchers stated in their report that the Crohn’s treatment looks very promising as a potential treatment for ankylosing spondylitis. They also expect that new therapies will be developed with clinical trials in the next couple years.

Originally posted 2007-10-23 20:26:53. Republished by Blog Post Promoter

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