Mutation in the cystatin C gene causes hereditary brain hemorrhage
(1989) In Progress in Clinical and Biological Research 317. p.241-246- Abstract
- 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... (More)
- 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 (Less)
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https://lup.lub.lu.se/record/1104902
- author
- Palsdottir, A ; Abrahamson, Magnus LU ; Thorsteinsson, L ; Arnason, A ; Olafsson, I ; Grubb, Anders LU and Jensson, O
- organization
- publishing date
- 1989
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Progress in Clinical and Biological Research
- volume
- 317
- pages
- 241 - 246
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- scopus:0024795711
- ISSN
- 0361-7742
- language
- English
- LU publication?
- yes
- id
- c93a0aeb-4aaa-496c-99ee-7b7c533e38dd (old id 1104902)
- date added to LUP
- 2016-04-01 16:40:58
- date last changed
- 2021-01-03 07:21:07
@article{c93a0aeb-4aaa-496c-99ee-7b7c533e38dd, abstract = {{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}}, author = {{Palsdottir, A and Abrahamson, Magnus and Thorsteinsson, L and Arnason, A and Olafsson, I and Grubb, Anders and Jensson, O}}, issn = {{0361-7742}}, language = {{eng}}, pages = {{241--246}}, publisher = {{John Wiley & Sons Inc.}}, series = {{Progress in Clinical and Biological Research}}, title = {{Mutation in the cystatin C gene causes hereditary brain hemorrhage}}, volume = {{317}}, year = {{1989}}, }