Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Cystatin C

Das Translationsprodukt des CST3-Gens ist das Cystatin C, dem möglicherweise eine bedeutung bei der Hemmung der Cystein-Proteasen zukommt. Eine Mutation konnte mit dem isländischen Typ der zerebralen Amyliodose assoziert werden. Die Vererbung ist autosomal dominant.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Zerebroarterielle Amyloidose
Zerebroarterielle Amyloidose vom Britischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Dänischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Holländischen Typ
APP
Zerebroarterielle Amyloidose vom Isländischen Typ
CST3
Nierenamyloidose
APOA1
B2M
CST3
FGA
LYZ

Referenzen:

1.

Shi GP et al. (1999) Cystatin C deficiency in human atherosclerosis and aortic aneurysms.

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2.

Crawford FC et al. (2000) A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease.

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3.

Finckh U et al. (2000) Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease.

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4.

Zurdel J et al. (2002) CST3 genotype associated with exudative age related macular degeneration.

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5.

Löfberg H et al. (1979) Quantitation of gamma-trace in human biological fluids: indications for production in the central nervous system.

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6.

Abrahamson M et al. (1992) Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.

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7.

Goddard KA et al. (2004) Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease.

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8.

Cathcart HM et al. (2005) Cystatin C as a risk factor for Alzheimer disease.

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9.

Pirttilä TJ et al. (2005) Cystatin C expression is associated with granule cell dispersion in epilepsy.

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10.

Monastero R et al. (2005) No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population.

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11.

Nacmias B et al. (2006) Cystatin C and apoe polymorphisms in Italian Alzheimer's disease.

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12.

Irani DN et al. (2006) Cleavage of cystatin C in the cerebrospinal fluid of patients with multiple sclerosis.

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13.

Balbín M et al. (1991) SstII polymorphic sites in the promoter region of the human cystatin C gene.

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14.

Hansson SF et al. (2007) Cystatin C in cerebrospinal fluid and multiple sclerosis.

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15.

Radde R et al. (2006) Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology.

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16.

Del Boccio P et al. (2007) Cleavage of cystatin C is not associated with multiple sclerosis.

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17.

Bertram L et al. (2007) Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.

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18.

Mi W et al. (2007) Cystatin C inhibits amyloid-beta deposition in Alzheimer's disease mouse models.

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19.

Kaeser SA et al. (2007) Cystatin C modulates cerebral beta-amyloidosis.

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20.

Abrahamson M et al. (1990) Structure and expression of the human cystatin C gene.

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21.

Löfberg H et al. () Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis.

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22.

Abrahamson M et al. (1989) The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20.

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23.

Jensson O et al. (1989) The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland.

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24.

Palsdottir A et al. (1988) Mutation in cystatin C gene causes hereditary brain haemorrhage.

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25.

Abrahamson M et al. (1987) Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C.

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26.

Ghiso J et al. (1986) Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C).

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27.

Jensson O et al. (1987) Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage.

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28.

Ghiso J et al. (1986) Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases.

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29.

Hochwald GM et al. (1985) Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis.

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30.

Barrett AJ et al. (1984) The place of human gamma-trace (cystatin C) amongst the cysteine proteinase inhibitors.

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31.

Grubb A et al. (1982) Human gamma-trace, a basic microprotein: amino acid sequence and presence in the adenohypophysis.

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32.

Löfberg H et al. (1983) Occurrence of gamma-trace in the calcitonin-producing C-cells of simian thyroid gland and human medullary thyroid carcinoma.

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33.

Grubb A et al. (1984) Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis.

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34.

Cohen DH et al. (1983) Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace.

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35.

Huh C et al. (1995) Structural organization, expression and chromosomal mapping of the mouse cystatin-C-encoding gene (Cst3).

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36.

Dickinson DP et al. (1994) Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2.

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37.

Abrahamson M et al. (1994) Increased body temperature accelerates aggregation of the Leu-68-->Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy.

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38.

Schnittger S et al. (1993) Cystatin C (CST3), the candidate gene for hereditary cystatin C amyloid angiopathy (HCCAA), and other members of the cystatin gene family are clustered on chromosome 20p11.2.

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39.

Olafsson I et al. (1995) The human cystatin C gene promoter: functional analysis and identification of heterogeneous mRNA.

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40.

Blacker D et al. (1997) ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative.

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41.

Merz GS et al. (1997) Human cystatin C forms an inactive dimer during intracellular trafficking in transfected CHO cells.

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