Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

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
Apolipoprotine A2-Amyloidose
APOA2
B2M
CST3
FGA
LYZ

Referenzen:

1.

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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2.

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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3.

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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4.

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

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5.

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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6.

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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7.

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

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8.

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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9.

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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10.

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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11.

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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12.

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

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13.

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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14.

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

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15.

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

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16.

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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17.

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

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18.

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

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19.

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

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20.

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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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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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32.

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

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33.

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

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34.

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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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.

None (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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42.

NCBI article

NCBI 1471 [^]
43.

OMIM.ORG article

Omim 604312 [^]
44.

Orphanet article

Orphanet ID 120865 [^]
45.

Wikipedia Artikel

Wikipedia DE (Cystatin_C) [^]
Update: 29. April 2019