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.
Study Type
OBSERVATIONAL
Enrollment
140
IRCCS San Raffaele
Milan, MI, Italy
RECRUITINGASST della Valle Olona - Ospedale di Gallarate
Gallarate, VA, Italy
RECRUITINGsequencing of mitochondrial DNA
the mitochondrial DNA collected from blood and cerebrospinal fluid will be sequenced and analysed, comparing the frequency of variants between the two disease courses
Time frame: 3 years
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.