Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

The purpose of this project is to study genetic determinants of mitochondrial impairment in primary progressive multiple sclerosis. Specific aims are: 1) identify mitochondrial-related pathways, inherited and somatic mitochondrial DNA mutations associated to primary progressive multiple sclerosis, 2) functionally assess the identified genetic alterations.

Multiple Sclerosis is a major cause of neurological disability, with a high socio-economic impact that increases as disability progresses. Effective treatment of primary progressive multiple sclerosis is still an unmet need and the underlying neurodegenerative processes have to be fully investigated. The purpose of this project is to study genetic determinants of mitochondrial impairment in primary progressive multiple sclerosis. Altered mitochondrial pathways will be investigate, as well as inherited and tissue-specific somatic mitochondrial variations associated with primary progressive multiple sclerosis.

Inclusion Criteria:

• Patients affected by primary progressive or relapsing remitting multiple sclerosis
• Patient able to provide informed consent

Exclusion Criteria:

• Individuals with < 18 years
• Patients not affected by primary progressive or relapsing remitting multiple sclerosis