Appointment of Josep M. Grau-Junyent, Group leader
Without mitochondria, we would not survive for even 30 seconds

Current research

Problem

Although the most important component of human beings is water, we cannot forget that muscle represents 40% of the human body and, therefore, it is interesting to know how such an important structure can become diseased. Muscles and mitochondria (cell organelles that supply energy to cells so that they can function), are involved in the appearance and development of relatively common illnesses. Especially prevalent are adult muscle diseases, mitochondrial dysfunctions (responsible for many syndromes), cardiomyopathy in chronic alcoholic patients, and septic shock, which is an important cause of death in intensive care units.

Approach

The group works, above all, with muscle diseases and mitochondrial dysfunctions. In relation to the first, it visits patients from other hospitals and primary care centres, it develops diagnostic protocols (beta-oxidation, dried blood spot, antibodies, imaging, muscular biopsies, etc.) and it collaborates with other centres (such as the Vall d'Hebron hospital and the Johns Hopkins) in the development of joint databases, therapeutic strategies, and the identification of biomarkers.

In relation to the second, it studies mitochondrial function in depth (respiration, genetic studies, etc.) and identifies patients and groups with mitochondrial dysfunction.

Impact

Its lines of research have allowed the group to develop an accurate protocol to diagnose, treat and monitor adult patients with muscle diseases. It has also been able to describe the biochemistry and genetics of primary and secondary mitochondrial dysfunction problems; to unequivocally demonstrate the mechanisms responsible for the toxicity of chronic alcohol consumption on the heart, and to identify prognostic factors in sepsis, as well as to design a treatment algorithm.