Altered platelet shape change in hereditary gelsolin Asp 187 Asn-related amyloidosis

Thrombosis and Haemostasis

Volumn 83, Issue 3, 2000, Pages 491-495

  Kiuru, Sari ^a   Javela, Kaija ^b   Somer, Hannu ^a   Kekomäki, Riitta ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FINNISH RED CROSS BLOOD SERVICE   (Finland)

Author keywords

Aggregometry; Gelsolin; Hereditary gelsolin related amyloidosis; Platelet function; Platelet shape change

Indexed keywords

ADENOSINE DIPHOSPHATE; ADRENALIN; ARACHIDONIC ACID; BLOOD CLOTTING FACTOR 8; COLLAGENREAGENT HORM; GELSOLIN; RISTOCETIN; UNCLASSIFIED DRUG;

ADULT; AGED; AMYLOIDOSIS; ARTICLE; BLEEDING; CELL STIMULATION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HEMOSTASIS; HUMAN; MALE; PRIORITY JOURNAL; SIBLING; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; THROMBOCYTE SHAPE;

EID: 0034066624     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613842     Document Type: Article

References (36)

1. Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome. Ann Clin Res 1969; 1: 314-24.
2. Kiuru S. Gelsolin-related familial amyloidosis. Finnish type (FAF) and it variants found worldwide. Amyloid: Int J Exp Clin Invest 1998; 5: 55-66.
3. Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B. Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med 1990; 172: 1865-7.
4. de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury CPJ. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nature Genet 1992: 2: 157-60.
5. Ghiso J, Haltia M, Prelli F, Novello J, Frangione B. Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. Biochem J 1990; 272: 827-30.
6. Haltia M, Ghiso J, Prelli F, Gallo G, Kiuru S, Somer H, Palo J, Frangione B. Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. Am J Pathol 1990; 136: 1223-8.
7. Kiuru S, Salonen O, Haltia M. Gelsolin-related spinal and cerebral amyloid angiopathy. Ann Neurol 1999; 45: 305-11.
8. 2+-dependent regulatory protein of actin sol-gel transformation, and its intracellular distribution in a variety of cells and tissues. J Cell Biol 1981; 91: 901-6.
9. Yin HL, Kwiatkowski DJ, Mole JE, Cole FS. Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin. J Biol Chem 1984; 259: 5271-6.
10. Yin HL, Stossel TP. Control of cytoplasmic actin gel-sol transformation by gelsolin, a calcium-dependent regulatory protein. Nature 1979; 281: 583-6.
11. Cunningham CC, Stossel TP, Kwiatkowski DJ. Enhanced motility in NIH 373 fibroblasts that overexpress gelsolin. Science 1991; 251: 1233-6.
12. Kothakota S, Azuma T, Reinhard C, Klippel A, Tang J, Chu K, McCarry TJ, Kirschner MW, Koths K, Kwiatkowski DJ, Williams LT. Caspase-3-generated fragment of gelsolin: effector of morphological change in apoptosis. Science 1997; 278: 294-8.
13. Lind SE, Yin HL. Stossel TP. Human platelets contain gelsolin: a regulator of actin filament length. J Clin Invest 1982; 69: 1384-7.
14. Hartwig JH. Mechanism of actin rearrangements mediating platelet activation. J Cell Biol 1992; 118: 1421-42.
15. Witke W, Sharpe AH, Hartwig JH, Azuma T, Stossel TP, Kwiatkowski DJ. Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin. Cell 1995;81:41-51.
16. 654→A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. Genomics 1992; 13: 237-9.
17. Ludlam CA. Assessment of platelet function. In: Haemostasis and Thrombosis. Bloom AL, Forbes CO, Thomas OP, Tuddenham EGD, eds. Edinburgh: Churchill and Livingstone 1994; 199-215.
18. Hardisty RM, MacPherson JC. A one-stage factor VIII assay and its use on venous and capillary plasma. Thromb Diathes Haemorrh 1962; 7: 215-29.
19. Macfarlene DE, Stibbe J, Kirby EP, Zucker MB, Grand RA, McPherson J. A method for assaying von Willebrand Factor (Ristocetin Cofactor). Thromb Diath Haemorrh 1975; 34: 306-8.
20. Lodish H, Baltimore D, Berk A, Zipursky SL, Matsudaira P, Darnell J. eds. Molecular cell biology. New York: WH Freeman and Company 1997.
21. 2+-dependent actin filament-severing protein. Thromb Haemost 1992; 67: 248-51.
22. Burtnick LD, Koepf EK, Grimes J, Jones EY, Stuart DI, McLaughlin PJ, Robinson RC. The crystal structure of plasma gelsolin: implications for actin severing, capping, and nucleation. Cell 1997; 90: 661-70.
23. Weeds AG, Gooch J, McLaughlin P, Maury CPJ. Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. FEBS Lett 1993; 335: 119-23.
24. Kangas H, Paunio T, Kalkkinen N, Jalanko A, Peltonen L. In vitro expression analysis shows that the secretory form of gelsolin is the sole source of amyloid in gelsolin-related amyloidosis. Hum Mol Genet 1996; 5: 1237-43.
25. Jantzen HM, Gousset L, Bhaskar V, Vincent D, Tai A, Reynolds EE, Conley PB. Evidence for two distinct G-protein-coupled ADP receptors mediating platelet activation. Thromh Haemost 1999; 81: 111-7.
26. Hartwig JH, Bokoch GM, Carpenter CL, Janmey PA, Taylor LA, Toker A, Stossel TP. Thrombin receptor ligation and activated Rac uncap actin filament barbed ends through phosphoinositide synthesis in permeabilized human platelets. Cell 1995; 82: 643-53.
27. Hartwig JH, Barkalow K. Polyphosphoinositide synthesis and platelet shape change. Curr Opin Hematol 1997; 4: 351-6.
28. Kiuru S. Familial amyloidosis of the Finnish type (FAF)-A clinical study of 30 patients. Acta Neurol Scand 1992; 86: 346-53.
29. Kiuru S, Nieminen T, Partinen M. Obstructive sleep apnoea in hereditary gelsolin-related amyloidosis. J Sleep Res 1999; 8: 143-9.
30. Meretoja J. Inherited systemic amyloidosis with corneal lattice dystrophy and cranial neuropathy. In: Amyloidosis. Wegelius O, Pasternack A. eds. London: Academic Press 1976; 195-209.
31. Yood RA, Skinner M, Rubinow A, Talarico L, Cohen AS. Bleeding manifestations in 100 patients with amyloidosis. JAMA 1983; 249: 1322-4.
32. Cohen A, Jones LA. Amyloidosis. Curr Opin Rheumat 1991; 3: 125-38.
33. Kangas H, Ulmanen I, Paunio T, Kwiatkowski DJ, Lehtovirta M, Jalanko A, Peltonen L. Functional consequences of amyloidosis mutation for gelsolin polypetide-analysis of gelsolin-actin interaction and gelsolin processing in gelsolin knock-out fibroblasts. FEBS Lett 1999; 454: 233-9.
34. Reilly MM, Staunton H. Peripheral nerve amyloidosis. Brain Pathol 1996; 6: 163-77.
35. Crook R. Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlder H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, Pöyhönen M, Kucera S, Haltia M. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Med 1998; 4: 452-5.
36. Li QX, Whyte S, Tanner JE, Evin G, Beyreuther K, Masters CL. Secretion of Alzheimer's disease Aβ amyloid peptide by activated human platelets. Lab Invest 1998; 78: 461-9.