Alzheimer disease-associated cystatin C variant undergoes impaired secretion

Luisa Benussi, Roberta Ghidoni, Tiana Steinhoff, Antonella Alberici, Aldo Villa, Federica Mazzoli, Francesca Nicosia, Laura Barbiero, Laura Broglio, Enrica Feudatari, Simona Signorini, Ulrich Finckh, Roger M. Nitsch, Giuliano Binetti

Research output: Contribution to journalArticlepeer-review


CST3 is the coding gene for cystatin C (CysC). CST3 B/B homozygosity is associated with an increased risk of developing Alzheimer disease. We performed CysC analysis on human primary skin fibroblasts obtained from donors carrying A/A, A/B, and B/B CST3. Pulse-chase experiments demonstrated that the release of the B variant of CysC has a different temporal pattern compared to that of the A one. Fibroblasts B/B homozygous displayed a reduced secretion of CysC due to a less efficient cleavage of the signal peptide, as suggested by high-resolution Western blot analysis and by in vitro assay. In the brain, the reduced level of CysC may represent the molecular factor responsible for the increased risk of Alzheimer disease.

Original languageEnglish
Pages (from-to)15-21
Number of pages7
JournalNeurobiology of Disease
Issue number1
Publication statusPublished - Jun 2003

ASJC Scopus subject areas

  • Neurology


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