Scientists from the University of Texas have found a gene linked to some deadly diseases of the body's main blood vessel, the aorta. They hope that their findings, published in the journal Circulation, will lead to new tests and treatments for aortic aneurysm and dissection.
Aortic aneurysm is an abnormal swelling of the lining of the aorta, which can dissect, or split, in a similar way to a blowout on a car tyre, causing death by massive blood loss. Around 6000 people die from the condition in the UK each year, but if aneurysms are spotted early enough, they are often treatable. However, detection is difficult because the condition builds slowly, often with no symptoms until it is too late, so a finding a genetic marker for the disease is critically important for early diagnosis.
Increased risk of the condition runs in families, so Dr Dianna Milewicz and her team looked at 80 families with a history of aneurysm and dissection. They found that four of the families had in common a mutant version of a gene called Transforming Growth Factor Beta Receptor Type II, which codes for a protein receptor that scientists think is important in regulating synthesis and breakdown of connective tissue. 'This gives us a molecular pathway to study for the development of therapies and for biological markers for the disease', said Dr Milewicz. 'We are studying how the mutation changes the cell biology of the cells in the aorta', she added.
As only four of the families studied carried the mutant version of the gene, it is certainly not the end of the story. 'We know there are more genes involved in the inheritance of aortic disease', said Dr Milewicz. The Texas team, and others, are currently searching for other culprits.