MSc Agnieszka Buda
Department(s): Department of Pathobiology of the Nervous System (Center for Brain Research)
Position: PHD Student
Location: Spitalgasse 4
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurometabolic disorder caused by an ABCD1 mutation, leading to accumulation of very long-chain fatty acids in tissues and plasma. Clinically, X-ALD presents as a spectrum of symptoms with the most severe form - cerebral X-ALD, characterised by rapid inflammatory demyelination in cerebral white matter.
The aim of my project is to study cholesterol metabolism in X-ALD derived cells and its potential involvement in the disease manifestation and progression. We hope to establish the intracellular consequences of altered cholesterol metabolism in X-ALD, with the special regard of the impact of the immune response.
X-ALD patients and control derived primary cell culture: monocyte isolation from the blood and further in vitro differentiation into macrophages; primary skin fibroblasts culture
- Gene expression analysis: RT-qPCR, Western Blot
- Microarray or RNA-seq data analysis with the use of the Qlucore Omics Explorer software
- Fluorescent microscopy
- FACS analysis (Guava® easyCyte™ Flow Cytometer)
- Lipid extraction and cholesterol measurement using commercially available kits
- Lipid staining (Oil Red O, Filipin III, TopFluor Cholesterol)
- Zierfuss B, Weinhofer I, Buda A, Popitsch N, Hess L, Moos V, Hametner S, Kemp S, Köhler W, Forss‐Petter S, Seiser C, Berger J (2020) Targeting foam cell formation in inflammatory brain diseases by the histone modifier MS‐275 Ann Clin Transl Neurol,
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