Mutation in cystatin C gene causes hereditary brain haemorrhage

Summary, in English

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder in which a cysteine proteinase inhibitor, cystatin C, is deposited as amyloid fibrils in the cerebral arteries of patients and leads to massive brain haemorrhage and death in young adults. A full length cystatin C cDNA probe revealed a mutation in the codon for leucine at position 68 which abolishes an Alu I restriction site in the cystatin C gene of HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in affected members of all eight families investigated, and that the mutated cystatin C gene causes HCCAA.

• Författare: A Palsdottir; Magnus Abrahamson; L Thorsteinsson; A Arnason; Isleifur Olafsson; Anders Grubb; O Jensson
• Avdelning/ar: Avdelningen för klinisk kemi och farmakologi
• Publiceringsår: 1988
• Språk: Engelska
• Sidor: 603-604
• Publikation/Tidskrift/Serie: The Lancet
• Volym: 332
• Issue: 8611
• Länkar: http://dx.doi.org/10.1016/S0140-6736(88)90641-1
• Dokumenttyp: Artikel i tidskrift
• Förlag: Elsevier
• Ämne: Pharmacology and Toxicology; Medicinal Chemistry
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 1474-547X