Unexpected side effects of deadly gene
24 Mar 2016 by Evoluted New Media
Gene carriers of a rare respiratory disease were found to have increased lung function, by scientists from Bristol University.
Gene carriers of a rare respiratory disease were found to have increased lung function, by scientists from Bristol University. Alpha1-antitrypsin deficiency (AATD) can cause reduced lung capacity as a result of emphysema. Found in one in 2,000 people, it is an autosomal codominant condition. AATD can also cause liver damage and cancer. However a new study showed that carriers of a defective alpha1-antitrypsin gene copy had increased lung capacity of 10% as well as being more than 1cm taller.
Professor Ian Day, from Bristol University and a senior author of this study, said: "Over the past several thousands of years, the deficiency gene seems to have been positively selected, and is mainly found in north Europe, as have gene variants for larger height and size generally.”
If someone has one copy of the gene for AATD, they are able to live a healthy life as long as they do not do anything to negatively affect breathing capabilities, such as smoking.
Professor Day added: “Our study suggests some treatment involving the alpha1-antitrypsin pathway might be able to make important modification of height in growth disorders.“
Alpha1- antitrypsin is already used as replacement therapy for individuals suffering from respiratory diseases. The use of recombinant alpha1- antitrypsin is under investigation as a therapy for AATD.
More than 20,000 people were involved in this study, which is part of the Healthy Living across the Life Course (HALCyon) project. Comprised of 30,000 people across nine cohort studies, the study is funded by the New Dynamics of Ageing research programme.
The findings were published in the Journal of Medical Genetics.
