Hemochromatosis is a condition where the body absorbs up to three times the normal amount of iron. Over an extended [...] No related posts.]]> A study published in the New England Journal of Medicine says that more than 25% of men with hemochromatosis, the most common inherited blood disorder, will develop arthritis, liver cancer and other serious complications.

Hemochromatosis is a condition where the body absorbs up to three times the normal amount of iron. Over an extended period of time, this causes an excess of iron to build up in the vital organs, joints and tissues. This can lead to a number of debilitating and potentially fatal conditions, including liver and heart disease, diabetes and arthritis.

Because the early symptoms of the disease, which include fatigue, weakness, weight loss, abdominal pain and joint pain, are often attributed to other conditions, hemochromatosis can be difficult to diagnose.

In order for the disease to be inherited, a person needs to have received the defective gene from both parents.

The study included 1,438 randomly selected, healthy adults that were followed for 12 years. Of those participants, 95 men and 105 women had inherited the defective gene from both parents. This made them susceptible to absorbing too much iron from their normal diet.

Of the 95 men, nearly 30% exhibited excessive iron in their tissues and organs. Only 1.2% of the women exhibited the excessive level of iron. The researchers surmised that women were less affected as a result of the blood (and iron) lost during menstruation and pregnancy.

It is estimated that 1 in 300-400 people is affected by the disease. It is most common in Northern Europeans, especially people of Irish, Scottish, Welsh and English decent.

The most common treatment is by removal of blood comparable in volume to a blood donation. Also, limiting intake of alcohol, vitamin C (increase iron absorption in the gut), red meat (high iron content), while increasing intake of iron absorption inhibitors such as high-tannin tea and calcium.
The study, conducted by more than a dozen researchers in Australia and the U.S., was published in the January 17th issue of the NEJM.

Originally posted 2008-01-29 19:58:35. Republished by Blog Post Promoter

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Two regions on Chromosome 9 have been previously identified as being linked to susceptibility and severity of RA. These are known as [...] No related posts.]]> The genetic connection to many types of arthritis are being discovered at a rapid pace. Now comes findings published in the New England Journal of Medicine of another genetic link rheumatoid arthritis.

Two regions on Chromosome 9 have been previously identified as being linked to susceptibility and severity of RA. These are known as HLA-DRB1 and PTPN22. Swedish and U.S. researchers have now identified another region on Chromosome 9 which are associated with RA that contains the TRAF1 and C5 genes.

These researchers compared the genetic makeup in blood samples of 1600 people with RA to 2000 people without from Sweden and the U.S. They performed this study using a relatively new genome-wide association approach which enables them to examine 300,000 to 500,000 small discrepancies in genetic material.

The scientists stated that they were not clear on how TRAF1/C5 is linked to rheumatoid arthritis or whether only one or both genes were responsible. They found that both genes control inflammatory processes which make them both candidates for further research.

The TRAF1/C5 region is the third of three major susceptibility regions for rheumatoid arthritis that were identified by the researchers whole genome screen.

Originally posted 2007-11-05 18:47:17. Republished by Blog Post Promoter

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Dr. Hallie Buckley, from Otago University’s Department of Anatomy and Structural Biology, has been studying bones from the oldest cemetery found in thePacific [...] No related posts.]]> Interesting story from New Zealand discussing the possibility that high rates of gout in Pacific Islanders may be a genetic trait passed to them by ancient voyagers across the Pacific Ocean.

Dr. Hallie Buckley, from Otago University’s Department of Anatomy and Structural Biology, has been studying bones from the oldest cemetery found in thePacific Islands. These remains are estimated to be 3000 to 3200 years old and were discovered on Efate Island in Vanuatu.

Dr. Hallie’s team examined the bones from 20 skeletons using radiography and other techniques and found damage to the joints in seven of them. Analysis of the damage, or erosive lesions, indicated that they were most likely caused by gouty arthritis, a build up of uric acid crystals in the joints.

The skeletons that were studied were from a people known as “Lapita”. They were named for the distinctive decorated pottery that has been found across the Pacific.

The Lapita’s diet would have consisted of plants and seafood, a diet that is rich in purines which are organic compounds that are a crucial part of DNA and RNA. This high purine diet may have set off attacks of gout in people that are susceptible.

There are scientists that have theorized that as the descendents of the Lapita people migrated across the Pacific they passed their genetic predisposition to gout on to their descendents. This is known as the “founder effect”, where a small number of people pass a genetic trait on to a large number of descendents. This could explain the high incidence of high uric acid levels and gout in many modern Pacific Island societies. The Maori of New Zealand have an incidence of gout of over 10%.

Dr. Hallie’s research was published in the publication Current Anthropolgy.

Originally posted 2007-12-27 19:54:50. 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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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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