| Summary: | Verkefnið er lokað til 01.04.2026. Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant type of cerebral amyloid angiopathy caused by an SNP (Single Nucleotide Polymorphism) called L68Q in the cystatin C gene, CST3. It leads to production of an unstable variant of human cystatin C (hCC) that has an increased tendency to aggregate and form amyloid deposits, predominantly in the cerebral arteries. The mutant cystatin C amyloid deposits damage the smooth muscle cells in the arterial walls making them prone to breakage and causing hemorrhagic stroke leading to brain damage, dementia and ultimately death. Antioxidants, like N-acetyl cysteine (NAC), have been shown to disrupt amyloid precipitation. Arctic Therapeutics ehf. has been conducting a clinical study (AT1-HCCAA) involving individuals, confirmed to carry the L68Q mutation, to test these properties of NAC. The aim of this project was to develop a method that could quantify human cystatin C levels in plasma and urine and measure analytes in samples from participants in the aforementioned AT1-HCCAA study. Although commercial ELISA assays are available, they have, notwithstanding their high cost, several limitations. Developing such a method, tailored to the specific needs of a project, is a great benefit for monitoring disease progression and evaluate potential medical treatment options. A direct sandwich ELISA for the detection of human cystatin C using monoclonal capture and detection antibody has been developed. Preliminary data indicate that the assay is suitable for detection of human cystatin C in biological samples. However, due to uncontrollable events during the course of this project, it was not possible to measure participants samples at this point. The ELISA assay developed in this project shows great potential but needs some further experiments and refinement. Arfgeng heilablæðing (Hereditary Cystatin C Amyloid Angiopathy (HCCAA)) er tegund af heilamýlildissjúkdómi sem erfist ókynbundið ríkjandi og stafar af einkirnabreytingu ...
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