Deborah Fratantonio
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The PON AIM 1893457 project (activity 2) deals with the pathogenetic mechanisms behind neuromuscular diseases at cellular and molecular level.
The short term goal of the study is to investigate the biochemistry aspects such as the reduction of mitochondrial function and oxidative stress underlying the progression of neuromuscular degenerative diseases. At this aim, studies will be carried out at "macroscopic" levels (mitochondrial quantity and quality), and molecular level of mitochondrial functionality (high-resolution respirometry, membrane potential, ROS content, advanced metabolic / flow-through by using tracers marked with stable isotopes). Post-translational modification studies will also be carried out on the proteins and/or mediators of mitochondrial biosynthesis.
Furthermore, some drugs and nutraceutical compounds will be tested on 2D and 3D cellular models in order to evaluate their potential protective effect on the aspects considered above.
The long term goal of the study is to identify new possible biomarkers associated with mitochondrial functionality and imbalance of oxidative stress, which can be used in the early diagnosis of neuromuscular diseases. Moreover, testing a set of substances on patient-derived cell lines, it will be possible to propose a personalized therapy.
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