Mutations in several genes contribute to diseases of the heart in humans; however, the precise genetic basis of several heart diseases is unknown. In this proposal, we will study the role of a newly described metabolic enzyme, referred to as FAH domain containing protein-1 (FAHD1), in human heart disease. The aim of the project is to identify carriers of mutations in the FAHD1 gene in the UK biobank cohort of 50.000 people, and to screen data available for these individuals for any health problems and clinical observations, in particular regarding a specific heart disease known as cardiomyopathy. Our hypothesis that reduced activity of the FAHD1 enzyme can lead to this specific heart disease has been supported by animal studies. The public health impact of this project is significant, particularly if it will turn out that mutations in the FAHD1 gene are associated with heart disease in humans. The duration of the project should not exceed three years.
