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The MITOQUAD project investigates the role of the DNA2 protein in mitochondrial DNA deletions, which are linked to various neuromuscular disorders. By studying its function and the impact of mutations, the project aims to enhance understanding of mitochondrial integrity and disease mechanisms.
Multiple deletions in mtDNA give rise to a variety of neuromuscular symptoms, often associated with genetic inherited disorders and aging and they have been reported in patients with neurodegenerative diseases, such as Parkinson’s and Alzheimer’s diseases.
In spite of its medical importance, not much is yet known about the mechanisms by which mtDNA deletions are formed.
Progressive external ophtalmoplegia (PEO) is one of the conditions characterized by the accumulation of mtDNA deletions.
This d…
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