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Κυτταροσκελετός: Ασθένειες που σχετίζονται με τις δομικές πρωτεΐνες του κυτταροσκελετού PowerPoint PPT Presentation


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Κυτταροσκελετός: Ασθένειες που σχετίζονται με τις δομικές πρωτεΐνες του κυτταροσκελετού. Μ. Κουλούκουσα Αν. Καθηγήτρια 2007-08. ΚΥΤΤΑΡΟΣΚΕΛΕΤΟΣ. Τρισδιάστατο δίκτυο που αποτελείται από μικροσωληνίσκους , μικροϊνίδια και ενδιάμεσα ινίδια.

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Κυτταροσκελετός: Ασθένειες που σχετίζονται με τις δομικές πρωτεΐνες του κυτταροσκελετού

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:

. .

2007-08


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  • , .

  • , ,

  • .

  • , :


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(-25nm)

.

( ) 13


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  • : (.. )

  • (.. ).

  • (), .

  • , . , () .


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()

  • :

    • .


4595296


4595296

  • MAPs (microtubule associated proteins) . .

  • (, , , , ) .


4595296

() ( 5nm)

  • .

  • F- G- . . .

  • .


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( )


4595296

  • , . .

  • ()

  • , .


4595296


4595296

  • (fimbrin) (fascin).

  • {, (, } , ( )} .

  • .


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( ) 13 G-)

  • , .

  • .


4595296

-


4595296

, F- - , , -


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10 nm

( 10nm)

  • .

  • .

  • (.. in vitro ),


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  • - .

  • , -(NH-) -(COOH)

  • . - .

  • 8 10nm.

.


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5-10% . , , .


4595296

  • (, ).

  • , () .

  • - , , .

  • , , (.. Mallory ).

  • .

  • .


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Vimentin mw 57 600

(vimentin), MW 57.600

  • o , .

  • , , , , , , , . . (, , , , ).

  • , , , , .

  • . . .


4595296


4595296


4595296


4595296

  • .

  • , , . . .

  • , , , , .


Desmin mw 55 000

(desmin) MW 55.000

  • .

  • .

  • .


4595296

  • NF1, NFm NFh W 70.000, 150.000 210.000 .

  • , . .

  • .

  • :

    1.

    2.

    3.

    4.


Gfap glial fibrillary acidic protein mw 50 000

(GFAP. Glial fibrillary acidic protein) MW 50.000

  • . .

  • GFAP - , , , . GFAP. 10% . , . GFAP

  • , , GFAP . 30 (MW 40000-68000) .


4595296

O ()


4595296

()

  • 8nm , , 40.000-68.000

  • ( I) / ( II). pH 19 . .

  • .(., I II ).

  • , Bowman . .


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204 , .

.

, .

.

,


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  • .


4595296

()

  • , .


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  • Duchenne (DMD) ( - ., , -, 1/3500, , ) . ( ). Becker (BMD)

  • Becker Duchenne ( Becker 1962 ) . Duchenne :

    • 1. ( 5 25 )

    • 2. .

    • 3. ( 25 ) . .


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  • , ( ), -.

  • , (DGC).

  • DGC , .

  • - (-) (-).

  • - - -


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  • DGC

  • DGC .

  • .

  • , , , , , (). .

  • . , , .


4595296

(DLMD, Duchenne-like muscular dystrophy) .

3, , Limb-Girdle (LGMD).

-, 1 ( , , )


4595296

Rett

  • Rett ( -, ) (synapsin ).

    • , , .


Calponin

(calponin)

  • . . : , ,

  • (Rb) p53

  • -

  • , , . ., . , , ,


4595296

Wiskott-Aldrich (WAS )

  • , , ,

  • 1:250.000 .

  • 1994 2000 100 WAS.

  • , . WASp ( )

  • Wiskott-Aldrich WASp, N-WASp , Scar-1, -2, -3.


4595296

: F-, . . (+) F- , .


4595296

  • , . Na+ Cl- , . , , .

  • 1986 7 (7q31). , 3 (1989) (250Kb) 27 () mRNA 6.5Kb.

  • (CFTR: Cystic Fibrosis Transmembrane Conductance Regulator) 1480 . Cl- cAMP .


Gelsolin

(gelsolin)

  • .

  • . . DN G- . DNA/


4595296

  • , (, Asp187Asn). 187 .

  • 3, . .


4595296

  • Pro321His

  • knockout 50% ,


4595296

  • .

  • . .

  • 4, 43 ( F-) .

  • - ,


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4595296

, .

, -, , , gelsolin ()

L- , (lymhocyte-specific protein 1, LSP1) . LSP1


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ABP( actin binding protein ) . , .

ABP

:

(GP) lb/9, FC 1 (FCR1), , CD44 PPIs (polyphosphoinositides, )


2 nf 2

( 2 NF-2, ()

  • , , , (), caf au lait, , ,

  • 22

  • 20

  • 2 merlin ()

  • merlin"Moesin-Ezrin-Radixin-Like Protein " ERM (ezrin moesin, radixin), F- CD44


4595296

  • , . ( , , , ). ( ).

  • , .

  • F- .

  • North American Indian children . , in vitro. : ;


4595296

    • 4.1

    • C


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  • . , ( F-) .

  • Mallory

  • Lewy Parkinson, neurofilament tangles ( ) Aslzheimer Pick Pick ( )


4595296

(GFAP) Rosenthal ( ).

(ubiquitin), .

ubiquitin . , .


4595296

:

(epidermolysis bullossa simplex) (junctional epidermolysis bullossa) . 5 14.

, ( ), () , , , . , .


4595296


4595296


4595296

( )


4595296


4595296

, , , BP30, 190kDa.

( ) BP180 / BP230 ( , ). 3 -5.

, .

(Dystrophic epidermolysis bullossa), ( VII),


4595296

( )


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-

  • . - .

    • . . (situs inversus) (1/10000 ).

    • Kartageners ( ), . iv - , 50% .


4595296

  • ( )


4595296

.


4595296

,

50% iv ,


Kartagener s

Kartageners

  • 1933 , , .

  • , << >>

    " (Primary Cilia Dyskinesis) ( )

  • Kartageners , , , . . .


4595296

:

(8+2), (9+3) (9+4)

(9+2)

, . .

TBCE ( E ), / , HRD (--) ARKCS (Kenny-Caffey syndrome).


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, , , .


Iv iv

iv/iv

  • ( ) 12 inversus viscerum (iv).

  • inversion of embryonic turning (inv), 4.

  • - , .

  • inv - . situs inversus.


4595296

iv (situs inversus). , (situs solitus) .

, . iv , .

iv 12 ( left/right dynein , lrd)

inv . inv , .


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, , - (zebrafish) (cascade) .

iv inv left/right dynein inv/inversin.

( 9 ) 11 [inv (11) (q13.5; q25)] , , .


4595296


4595296

  • Shh (Sonic hedghog) FGF-8 (fibroblast growth factor) , nodal lefty-1 .

  • lefty-1 .

  • Pitx-2 , , ,


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nodal ( TGF-) pitx-2, (zing finger protein), nodal, , . nodal TGF- , lefty-2, , nodal .

- : lefty-1 ( TGF-), nodal lefty-2 .

Sonic hedgehog (Shh) lefty-1 . Shh. o [activin type IIA receptor , (ActRIIA)] Shh Hensen.


4595296

nodal lefty inversus viscerum (iv), [left-right dynein, (lrd)] Kif3A Kif3B. , - .

. nodal, lefty -1 lefty -2 Pitx2. Nkx3.2

Smad5 inv, SIL Activin B brachyury


4595296

  • Drosophila

  • /. , , , .


4595296

()

  • taumicrotubule-associated proteins (MAPs).

  • . , , .

  • lzheimer tau . tau . (paired helical filaments, PHF). T neurofilament tangles (NFT). F , .


4595296

PHF "" (Reactive Oxygen Intermediates, ROIs). .

tau Alzheimer, , Lou Gehrigs disease, Picks disease, (progressive supranuclear pulsy) Down.


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1. :Alan Stevens-James Lowe, -:. , 2 , 1997, .

2.:., 1999, .

3. :C.Junqueira, J. Carneiro, R. Kelly, -:. , 1991,

4.Molecular Cell Biology: J. Danell, H. Lodish, D.Baltimore Second Edition,. Scientific American Books,1990.

5.Immunohistochemistry on Paraffin Sections, Technical principles and Diagnostic applications in routine pathology:H. Starz,GIT VERLAG, GMDH Darmstadt, 1991.

6.Kunze and B. Rstow: Pathological Aspects of Cytoskeleton Components, Eur. J. Clin. Chem. Clin. Biochem vol. 31, 1193, pp 477-487.

7.P.A. Janmey and C. Chaponnier. Medical Aspects of the actin cytoskeleton. Current opinion in cell Biology, 1995, 7: 111-117

8.Mandelkow EM and Mandelkow E. Tau as a marker for Alzheimers disease, TIBS 18, Elsevier Science Publishers, 1993

9.S.Paul Oh, En Li: Gene-dosage-sensitive genetic interactions between onversus viscerum (iv), nodal, and activin type IIB receptor (ActRIIB)genes in asymmetrical patterning of the visceral organs along the left-right axis. Dev Dyn 224 (3) 279-290, 2002


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