| 1. |
- Abrahamson, Magnus, et al.
(författare)
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Hereditary cystatin C amyloid angiopathy: Identification of the disease causing mutation and specific diagnosis by polymerase chain reaction based analysis
- 1992
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Ingår i: Human Genetics. - 1432-1203. ; 89:4, s. 377-380
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary cystatin C amyloid angiopathy (HCCAA) is a dominantly inherited disease characterized by amyloidosis, dementia and fatal cerebral hemorrhage of young adults. A method for rapid and simple diagnosis of HCCAA is described. It is based upon oligonucleotide-directed enzymatic amplification of a 275-bp genomic DNA segment containing exon 2 of the cystatin C gene from a blood sample, followed by digestion of the amplification product with AluI. Loss of an AluI recognition site in the amplified DNA segment from HCCAA patients results in a deviating band-pattern at agarose gel electrophoresis, compared with that obtained from normal subjects or unaffected HCCAA family members. In a population of 9 patients with manifest HCCAA, 14 patients with other causes of brain hemorrhage and 16 healthy individuals, the diagnostic procedure displayed a sensitivity and specificity for HCCAA of 100%. Amplified DNA segments from 4 HCCAA patients of four different families were analyzed by nucleotide sequencing; the HCCAA-causing mutation in all families was found to be a single TrarrA substitution in the codon for amino acid residue 68 of cystatin C.
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| 2. |
- Carlsson, S, et al.
(författare)
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Evidence for an adrenergic innervation of the adrenal cortical blood vessels in rats.
- 1993
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Ingår i: Acta physiologica Scandinavica. - 0001-6772. ; 149:1, s. 23-30
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to investigate the blood flow in the adrenal cortex of the rat. Relative changes in the adrenal cortical blood flow were continuously measured by Laser Doppler flowmetry in 33 chloralose-anaesthetized artificially ventilated rats during electrical stimulation (1 ms, 5 V) of the left great splanchnic nerve (LGSN), which conveys both pre- and post-ganglionic nerve fibres to the adrenal gland. Laser Doppler flux (LDF) was decreased and regional resistance (RR) was increased by augmenting nerve stimulation at increasingly higher frequencies (2, 4, 8, 20 and 40 Hz). The decrease in LDF, when compared to pre-drug stimulations at 4 Hz was partially or totally inhibited by the adrenergic blocking agents trimethaphan (TRIM), guanethidine (GUA) and alpha 1-blockade with prazosin (PRAZ). Furthermore, both the decrease in LDF and the increase in RR were either completely or partially blocked by stimulation at 40 Hz after TRIM-treatment and GUA-treatment. It is concluded that the adrenal cortex in the rat is innervated by post-ganglionic adrenergic nerve fibres, which are involved in the regulation of blood flow in the adrenal cortex.
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| 3. |
- Palsdottir, A, et al.
(författare)
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Three RFLP's at the 3' end of the cystatin C gene, the disease gene in hereditary cystatin C amyloid angiopathy (HCCAA) in Iceland
- 1990
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Ingår i: Nucleic Acids Research. - : Oxford University Press (OUP). - 1362-4962 .- 0305-1048. ; 18:24, s. 7471-7471
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Tidskriftsartikel (refereegranskat)abstract
- Sputum samples from 25 patients with bronchiectasis were assayed enzymatically for myeloperoxidase, neutrophil elastase and cathepsin B, and immunologically for cystatin A, cystatin B, cystatin C, cystatin S and kininogen. High myeloperoxidase and neutrophil elastase levels were found in those sputum samples that were assessed visually to be purulent. These samples were also found to contain high levels of cathepsin B activity and cystatin A, but low levels of cystatin S and of the most effective cathepsin B inhibitor, cystatin C. In contrast, sputum samples that were low in myeloperoxidase and neutrophil elastase activities had low levels of cathepsin B and cystatin A, but high cystatin C and S levels. It is concluded that cathepsin B activity in sputum is positively correlated with the degree of inflammation and neutrophil recruitment. Although this may be due in part to reduced amounts of cathepsin B inhibitors, particularly cystatin C, theoretical considerations suggest that factors other than the gross level of inhibitors must be involved in the control of cathepsin B activity.
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