Dr Mila Ljujic, post-doctoral researcher at CÚRAM, NUI Galway.
Alpha-1 antitrypsin deficiency is a rare genetic disorder that affects the lungs and/or the liver and is caused by abnormal expression of the alpha-1 antitrypsin (AAT) protein. Prevalence of the disease is higher in Ireland than in most other countries.
Alpha-1 antitrypsin is a protein that is made in the liver and released into the bloodstream. AAT protects the lungs so they can work normally, but without it, lungs can be damaged and breathing becomes difficult. Symptoms range from shortness of breath with mild activity, to repeated respiratory infections, fatigue, rapid heartbeat upon standing, vision problems and unintentional weight loss.
Some individuals with AATD have advanced lung disease and emphysema and other common diagnoses include chronic obstructive pulmonary disease (COPD), asthma or chronic bronchitis. Liver disease is another symptom of AATD which occurs in 10% of affected children and 15% of affected adults.
CÚRAM post-doctoral researcher Mila Ljujic, who secured grant funding for the project through the global healthcare company Grifols, explains that autophagy, the degradation of unnecessary or dysfunctional cellular components, plays an important role in the development of AATD.
Dr Ljujic explains, “Beclin-1, a protein produced by humans, is a key initiator of autophagy. A previous study on a similar form of the Beclin-1 protein in yeast has shown that it helps dispose of the harmful version of the AAT protein (Z-AAT). However, studies on its role in mammalian cells are lacking and we would like to find out more about it. Our aim is to identify how autophagy affects and regulates the cells response in AATD and to explore whether changes in Beclin-1 expression affect the response to Z-AAT overexpression.”
Congratulating Dr Ljujic on her success in being granted funding for the project, Professor Abhay Pandit, Director of CÚRAM said: “Our researchers are exploring the disease mechanisms of a wide range of clinical targets to design ways of working with the body to overcome and manage the effects of chronic illness and increase quality of life for patients and continue to attract top level funding to tackle these important issues.”
Based at NUI Galway and backed by Science Foundation Ireland and Industry funding, CÚRAM works with industry and clinical partners to radically improve health outcomes for chronically ill patients through the development of the next generation of ‘smart’ implantable medical devices.
Author: Marketing and Communications Office, NUI Galway