Multiple Sclerosis
Conditions
Keywords
multiple sclerosis, mitochondria
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
Azienda Socio Sanitaria Territoriale della Valle Olona
IRCCS San Raffaele
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| sequencing of mitochondrial DNA | 3 years | the mitochondrial DNA collected from blood and cerebrospinal fluid will be sequenced and analysed, comparing the frequency of variants between the two disease courses |
Countries
Italy
Contacts
Primary ContactFederica Esposito
Outcome results
None listed