Targeting Neuroinflammation in Friedreich´s Ataxia
Targeting Neuroinflammation in Friedreich´s Ataxia
Disciplines
Medical-Theoretical Sciences, Pharmacy (100%)
Keywords
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Innate Immunity,
Cgas,
STING,
Friedreich's Ataxia,
Neuroinflammation
Friedreichs Ataxia (FA) is the most common inherited ataxia among those of European ancestry. Average age of onset is between 1015 years. It is caused by a mutation in a single gene called Frataxin, which plays an essential role in the mitochondrial iron metabolism. FA is characterized by a slow and progressive loss (=degeneration) of neurons and cardiomyocytes, both cell types that highly depend on mitochondrial metabolism. To date there is no known cure for FA leading to a dramatically reduced life expectancy in affected people. Several recent studies also document inflammation among FA patients, however the main immunological drivers remain unknown. Dr. Mulazzanis research proposal seeks to investigate the link between neuroinflammation and -degeneration, with the hope that this will open novel therapeutic avenues for an otherwise fatal disease.
Research Output
- 21 Citations
- 2 Publications
- 1 Methods & Materials
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2023
Title G-CSF drives autoinflammation in APLAID DOI 10.1038/s41590-023-01473-6 Type Journal Article Author Mulazzani E Journal Nature Immunology Pages 814-826 Link Publication -
2024
Title Optical coherence tomography assessment of disease activity in cryopyrin-associated periodic syndrome DOI 10.1111/ene.16301 Type Journal Article Author Mulazzani E Journal European Journal of Neurology Link Publication
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2025
Title CRISPR Cas 9 gene editing, iPSCs Type Cell line Public Access