Researchers identify new drug target for serious heart and lung condition
A team of researchers, including Centre for Genomic and Experimental Medicine Director Professor Tim Aitman, has identified a gene that sheds new light on a potentially fatal heart and lung condition and could lead to a new treatment: August 2015
A team of researchers, including Centre for Genomic and Experimental Medicine Director Professor Tim Aitman, has identified a gene that sheds new light on a potentially fatal heart and lung condition and could lead to a new treatment.
The findings, published in Nature, indicate that a new treatment for pulmonary arterial hypertension (PAH), a debilitating disease, could be produced by targeting this gene. PAH occurs when blood vessels in the lung constrict and become stiffer, putting a strain on the heart as it tries to pump blood through the lungs. It can be brought on at high altitudes due to a lack of oxygen in the air and there are also known to be more severe genetic forms of the condition.
In the UK, around 6,500 people are diagnosed with the chronic and debilitating PAH. The disease leaves sufferers feeling breathless and exhausted and leads to heart failure. Current treatments target only the symptoms and prognosis is very poor - once diagnosed with PAH, a person has a 30% chance of dying within three years.
The research team identified a gene that is switched on in the blood vessels of the lung in PAH. Disabling this gene helps protect against pulmonary hypertension in low oxygen conditions. The team believes this provides a clue for a new treatment approach to PAH.
The gene was first identified in a type of rat that is resistant to developing pulmonary hypertension in a low oxygen atmosphere. It is responsible for producing a protein called ZIP12, which regulates zinc levels in cells. It is not active in normal lungs but is switched on in the lungs of people with PAH and other types of pulmonary hypertension. Generating the rats in which the important transporter ZIP12 was missing was critical in identifying this critical gene.
Treatments currently available for PAH can offer some relief but they do not tackle the cause of the disease. By developing drugs that can act on the ZIP12 protein it may be possible to reverse or delay the progression of the disease. These drugs may also provide protection against PAH in people at risk.
Professor Tim Aitman, Director of the Centre for Genomic and Experimental Medicine, said "This study, originating from classic genetic analysis of an experimental model of human lung disease demonstrates the power of genome technology, including whole genome sequencing, to give important insights into the cause of a human disease. The study also shows how a multi-disciplinary collaboration between physicians, physiologists, genome biologists and clinical pharmacologists, over a 15-year period, can come together to identify a new drug target for a currently intractable human condition".
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