A team of researchers from the University of Melbourne have discovered a rare cancer that affects a rare gene in people with rare blood type.
Google News article Researchers have identified a rare mutation in a gene that is part of the blood type that affects the risk of developing circulatory diseases, including atherosclerosis.
“The risk of being at increased risk of type 2 diabetes, coronary heart disease, stroke and certain cancers was significantly higher in people who carried a mutation in this gene,” lead researcher Dr. David Winton said.
“We found that this mutation was associated with a reduced risk of a range of circulatory disease, including circulatory disorders, type 2, and cardiovascular diseases.”
“We also found that there was a significant reduction in risk of circulations diseases and death due to circulatory conditions.”
“There was a trend towards decreased risk for circulatory problems with age and there was an association between age and the risk for developing circulations disease.”
“The study found that the mutation in the gene was more common in people of the same blood type and this increased the chance of developing the circulatory condition, but the mutation was less prevalent in people from different blood types.”
The researchers have found that people with the mutation have an increased risk for cardiovascular diseases and the condition has been linked to the development of type 1 diabetes, atherosclerotic cardiovascular disease and some cancers.
“While the risk is reduced with age, it does not necessarily go away,” Dr Winton told CBC News.
“It is possible that the disease may still persist in people after a person turns 50 or 60, but it does suggest that it might be a more complex pathway that could potentially lead to other diseases.”
The study was published online in the American Journal of Public Health.
Dr Winton, who is also a professor of cardiovascular medicine at the University’s Department of Medicine, said the findings could provide a way to develop treatments to help those at higher risk of the disease.
“This may allow people who are not at high risk of disease to be treated with medications that are less likely to cause adverse side effects,” Dr. Winton explained.
“If we can treat this mutation by altering the gene, then we could potentially decrease the risk.”
“In fact, this mutation appears to be related to the risk associated with developing type 2 diabetics.”
Dr Wessons study involved identifying the gene mutation in 1,722 Australians.
He said there are around 10 million people in Australia with a blood type other than A. The researchers found a significant association between a high blood type with a lower risk of diabetes and cardiovascular disease.
People with the highest risk of heart disease and stroke were more likely to have the gene variant, which was more prevalent in men.
“Although this mutation is associated with the development and progression of certain cancers, the exact mechanism of action for this finding is unclear,” Dr Kelleher said.
A similar study by Dr Wessels team found a similar result, but with more people of Asian descent.
The researchers said they found that, as a result of the genetic variation, people with an increased frequency of this mutation were more than three times as likely to develop cardiovascular diseases, diabetes and stroke.
Dr. Wessel, who said he had worked in Australia since the 1960s, said he was particularly proud of the work he was doing in Melbourne.
“Melbourne is home to a large number of genetic diseases, many of which are not associated with lifestyle factors,” Dr D’Arcy said.
Dr Kellehers team is working with the Australian Heart Foundation to develop a program to target the mutation that could eventually be used to help treat people with heart disease.