Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Clusterin

Das CLU-Gen kodiert ein sezerniertes Chaperon (Hilfsproteine bei der Faltung anderer Proteine), welches unter Stressbedingungen auch im Zytosol gefunden wird. Genetische Variationen dieses Gens wurden mit verschiedenen Erkrankungen wie Alzheimer, atypisches hämolytisch urämisces Syndrom und FSGS assoziert.

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:

Alzheimer Erkrankung
APOE
APP
CLU
CYP2D6
HFE
Hämolytisch Urämisches Syndrom
ADAMTS13
C3
C4BPA
C4BPB
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
Methylmalonazidurie
Methylmalonazidurie Typ mut
MUT
Methylmalonazidurie mit Homozysteinurie cblC
MMACHC
Methylmalonazidurie mit Homozysteinurie cblD
MMADHC
PIGA
THBD
Fokal segmentale Glomerulosklerose (FSGS)
ALG13
ARHGAP24
CLU
Hereditäre FSGS vom Typ 1
ACTN4
Hereditäre FSGS vom Typ 2
TRPC6
Hereditäre FSGS vom Typ 3
CD2AP
Hereditäre FSGS vom Typ 4
APOL1
Hereditäre FSGS vom Typ 5
INF2
Hereditäre FSGS vom Typ 6
MYO1E
Hereditäre FSGS vom Typ 7
PAX2
NXF5
Apolipoprotein-Mangel
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1-Mangel
APOA1
Apolipoprotein A2-Mangel
APOA2
Apolipoprotein F-Mangel
APOF
Apolipoprotein H-Mangel
APOH
CLU

Referenzen:

1.

DeMattos RB et. al. (2004) ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo.

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2.

McLaughlin L et al. (2000) Apolipoprotein J/clusterin limits the severity of murine autoimmune myocarditis.

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3.

Han BH et al. (2001) Clusterin contributes to caspase-3-independent brain injury following neonatal hypoxia-ischemia.

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4.

Ghiggeri GM et al. (2002) Depletion of clusterin in renal diseases causing nephrotic syndrome.

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5.

Chen X et al. (2003) Clusterin as a biomarker in murine and human intestinal neoplasia.

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6.

Dietzsch E et al. (1992) Regional localization of the gene for clusterin (SP-40,40; gene symbol CLI) to human chromosome 8p12-->p21.

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7.

Ostermeier GC et al. (2004) Reproductive biology: delivering spermatozoan RNA to the oocyte.

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8.

Jenne DE et al. (1992) Clusterin: the intriguing guises of a widely expressed glycoprotein.

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9.

Zhang H et al. (2005) Clusterin inhibits apoptosis by interacting with activated Bax.

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10.

Tobe T et al. (1991) Assignment of a human serum glycoprotein SP-40,40 gene (CLI) to chromosome 8.

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11.

Zenkel M et al. (2006) Clusterin deficiency in eyes with pseudoexfoliation syndrome may be implicated in the aggregation and deposition of pseudoexfoliative material.

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12.

Kamboh MI et al. (1991) Genetic studies of human apolipoproteins. XX. Genetic polymorphism of apolipoprotein J and its impact on quantitative lipid traits in normolipidemic subjects.

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13.

Ståhl AL et al. (2009) A novel mutation in the complement regulator clusterin in recurrent hemolytic uremic syndrome.

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14.

de Silva HV et al. (1990) Apolipoprotein J: structure and tissue distribution.

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15.

Purrello M et al. (1991) The gene for SP-40,40, human homolog of rat sulfated glycoprotein 2, rat clusterin, and rat testosterone-repressed prostate message 2, maps to chromosome 8.

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16.

O'Bryan MK et al. (1990) Human seminal clusterin (SP-40,40). Isolation and characterization.

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17.

Slawin K et al. (1990) Chromosomal assignment of the human homologue encoding SGP-2.

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18.

de Silva HV et al. (1990) Purification and characterization of apolipoprotein J.

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19.

Murphy BF et al. (1988) SP-40,40, a newly identified normal human serum protein found in the SC5b-9 complex of complement and in the immune deposits in glomerulonephritis.

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20.

Kirszbaum L et al. (1989) Molecular cloning and characterization of the novel, human complement-associated protein, SP-40,40: a link between the complement and reproductive systems.

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21.

Duguid JR et al. (1989) Changes in brain gene expression shared by scrapie and Alzheimer disease.

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22.

Dragunow M et al. (1995) Clusterin accumulates in dying neurons following status epilepticus.

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23.

Wong P et al. (1993) Genomic organization and expression of the rat TRPM-2 (clusterin) gene, a gene implicated in apoptosis.

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24.

Wong P et al. (1994) Molecular characterization of human TRPM-2/clusterin, a gene associated with sperm maturation, apoptosis and neurodegeneration.

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25.

Fink TM et al. (1993) Human clusterin (CLI) maps to 8p21 in proximity to the lipoprotein lipase (LPL) gene.

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26.

Danik M et al. (1993) Localization of sulfated glycoprotein-2/clusterin mRNA in the rat brain by in situ hybridization.

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27.

Birkenmeier EH et al. (1993) Sulfated glycoprotein-2 (Sgp-2) maps to mouse chromosome 14.

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28.

Bertrand P et al. (1995) Association of apolipoprotein E genotype with brain levels of apolipoprotein E and apolipoprotein J (clusterin) in Alzheimer disease.

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29.

Navab M et al. (1997) Mildly oxidized LDL induces an increased apolipoprotein J/paraoxonase ratio.

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