Uncovering genomic regulatory elements controlling muscle function

A wide range of diseases affects how well our muscles work. This has been related not only to poor quality of life due to muscle weakness but also to the fact that loss of muscle mass worsens the overall prognosis of almost any disease. It is also interesting to note that people respond differently to the same disease state, where some rapidly develop muscle atrophy, while others are able to maintain their muscles fairly intact even though the disease is still present. So, what determines these individual responses? The answer might be hidden in what we call “the Dark Side of the genome”. Indeed, the years following the completion of the Human Genome Project revealed that most of the common genetic mutations are not located in coding genes, those that carry the information required to build proteins, but actually in genomic regions whose function was unknown and usually referred as junk DNA. Nowadays, some of these regions are called “enhancers” and control when and in which cells a given coding gene (or group of genes) will be activated. Thus, my research aim is to shed some light on this part of our genome, trying to identify enhancers involved in the activation of genes during loss and gain of muscle mass. By doing this, we would be able to, for example, identify patients with high risk for developing muscle atrophy. This information could be used to optimize the disease treatment in a personalized fashion, curbing muscle loss and ultimately improving recovery and survival rates of conditions such as cancer, diabetes, spinal cord injury and others.