Mutation in the cystatin C gene causes hereditary brain hemorrhage

Summary, in English

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder leading to massive brain hemorrhage and death in young adults (Jensson et al., 1987). A variant of a potent inhibitor of cysteine proteinases, cystatin C (Barrett et al., 1984), is deposited as amyloid fibrils in the cerebral arteries of the patients (Ghiso et al., 1986). We have used the full length cystatin C cDNA probe (Abrahamson et al., 1987) to demonstrate a mutation in the codon for leucine at position 68, which abolishes an Alu I restriction site in cystatin C gene of the HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in the affected members in all eight families investigated, proving that the mutated cystatin C gene causes HCCAA. This DNA marker will be useful for the diagnosis of HCCAA in patients, asymptomatic affected individuals and also for pre-natal diagnosis. HCCAA is the first human disorder known to be caused by an abnormal gene for a cysteine proteinase inhibitor

• Författare: A Palsdottir; Magnus Abrahamson; L Thorsteinsson; A Arnason; I Olafsson; Anders Grubb; O Jensson
• Avdelning/ar: Avdelningen för klinisk kemi och farmakologi
• Publiceringsår: 1989
• Språk: Engelska
• Sidor: 241-246
• Publikation/Tidskrift/Serie: Progress in Clinical and Biological Research
• Volym: 317
• Dokumenttyp: Artikel i tidskrift
• Förlag: John Wiley & Sons Inc.
• Ämne: Pharmacology and Toxicology; Medicinal Chemistry
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 0361-7742