Mitochondria are subcellular organelles present in every cell of the body and responsible for the production of energy through the process of cellular respiration. As a consequence, their dysfunction mainly affects high energy-demanding organs and cells, like neurons, potentially leading to cell death.
Mitochondrial dysfunction and bioenergetics impairment are nowadays recognized as a “common denominator” of several neurodegenerative diseases, including neuropathies.
The role of mitochondria in peripheral neuropathies is further supported by genetic evidences; indeed, a fraction of inherited cases are caused by mutations in the mitochondrial DNA or in nuclear genes encoding mitochondrial proteins (e.g. GDAP1, MFN2, POLG).
In this lesson we will talk about the physiological role of mitochondria and the pathological mechanisms underpinning mitochondrial neuropathies, with a focus on their genetic basis and the peculiar features of mitochondrial DNA.
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