L68Q cystatin C. Expression, cellular transport and turnover of the cystatin C variant forming amyloid in patients with Hereditary Cystatin C Amyloid Angiopathy (HCCAA)

Hereditary cystatin C amyloid angiopathy (HCCAA) is a disorder characterised by multiple strokes in young adults, resulting in paralysis and dementia. The disease is caused by a mutation in the gene coding for the peptidase inhibitor cystatin C. The mutation causes an amino acid substitution Leu68 to Gln in cystatin C (L68Q cystatin C) which results in deposition of the protein in the blood vessels of the brain. The overall goal of this study was to elucidate the pathogenic mechanisms leading to amyloid deposition in patients suffering from HCCAA. This was addressed by studying factors....