Abstract
Background
Obstructive vascular lesions at the terminal portion of the internal carotid arteries are thought to be the primary and essential lesions in moyamoya disease. The etiology remains unknown. To detect possible mediators of the thickened intima of moyamoya disease, we measured serum alpha-1-antitrypsin (α1-AT) levels and characterized the phenotype of patients with familial moyamoya disease.
Patients and methods
Fifty-six individuals were examined, including 29 patients with moyamoya disease from 14 families. Serum α1-AT levels were analyzed by electroimmunoassay and genomic phenotype by isoelectric focusing.
Results
All individuals had a normal α1-AT phenotype. The average serum α1-AT level in moyamoya disease patients was significantly higher than that of normal individuals, although both were within the normal range.
Conclusions
These findings suggest that serum α1-AT level may be a marker, rather than an etiologic factor, indicating the progression of moyamoya disease.
Similar content being viewed by others
References
Aoyagi M, Fukai N, Sakamoto H, Shinkai T, Matsushima Y, Yamamoto M, Yamamoto K (1991) Altered cellular responses to serum mitogens, including platelet-derived growth factor, in cultured smooth muscle cells derived from arteries of patients with moyamoya disease. J Cell Physiol 147:191–198
Aoyagi M, Ogami K, Matsushima Y, Shikata M, Yamamoto M, Yamamoto K (1995) Human leukocyte antigen in patients with moyamoya disease. Stroke 26:415–417
Aoyagi M, Fukai N, Yamamoto M, Nakagawa K, Matsushima Y, Yamamoto K (1996) Early development of intimal thickening in superficial temporal arteries in patients with moyamoya disease. Stroke 27:1750–1754
Carrell RW, Jeppsson JO, Laurell CB, Brennan SO, Owen MC, Vaughan L, Boswell DR (1982) Structure and variation of human α1-antitrypsin. Nature 298:329–334
Cox DW (1994) α1-Antitrypsin: a guardian of vascular tissue. Mayo Clin Proc 69:1123–1124
Duranton J, Adam C, Bieth JG (1998) Kinetic mechanism of the inhibition of catepsin G by α1-antichymotrypsin and α1-proteinase inhibitor. Biochemistry 37:11239–11245
Eriksson S (1996) A 30-year perspective on α1-antitrypsin deficiency. Chest 110 [Suppl]:S237–S242
Faber JP, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier F, Olek K (1994) Identification and DNA sequence analysis of 15 new α1-antitrypsin variants, including two PIQ0 alleles and one deficient PIM allele. Am J Hum Genet 55:1113–1121
Fukui M (1997) Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis ("moyamoya disease"). Research Committee on Spontaneous Occlusion of the Circle of Willis (moyamoya disease) of the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 99 [Suppl 2]:S238–S240
Fukuyama Y, Osawa M, Kanai N (1992) Moyamoya disease (syndrome) and the Down syndrome. Brain Dev 14:254–256
Ikari Y, Mulvihill E, Schwartz SM (2001) 1-Proteinase inhibitor, α1-antichymotrypsin, and, α2-macrogloblin are the antiapoptotic factors of vascular smooth muscle cells. J Biol Chem 276:11798–11830
Ikeda E (1991) Systemic vascular changes in spontaneous occlusion of the circle of Willis. Stroke 22:1358–1362
Ikeda E, Hosoda Y (1992) Spontaneous occlusion of the circle of Willis (cerebrovascular moyamoya disease): with special reference to its clinicopathological identity. Brain Dev 14:251–253
Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T (1999) Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 64:533–537
Ikezaki K, Han DH, Kawano T, Kinukawa N, Fukui M (1997) A clinical comparison of definite moyamoya disease between South Korea and Japan. Stroke 28:2513–2517
Ikezaki K, Kono S, Fukui M (2001) Etiology of moyamoya disease: pathology, pathophysiology, and genetics. In: Ikezaki K (ed) Moyamoya disease. American Association of Neurological Surgeons, Rolling Meadows, pp 55–64
Inoue TK, Ikezaki K, Sasazuki T, Ono T, Kamikawaji N, Matsushima T, Fukui M (1997) DNA typing of HLA in the patients with moyamoya disease. Jpn J Hum Genet 42:507–515
Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M (2000) Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol 15:179–182
Kalsheker NA (1996) α1-antichymotrypsin. Int J Biochem Cell Biol 28:961–964
Kueppers F (1976) Determination of α1-antitrypsin phenotypes by isoelectric focusing in polyacrylamide gels. J Lab Clin Med 88:151–155
Luft FC (1999) Alpha-1-antitrypsin and its relevance to human disease. J Mol Med 77:359–360
Luscher TF, Stanson AW, Houser OW, Hollier LH, Sheps SG (1986) Arterial fibromuscular dysplasia. Mayo Clin Proc 62:931–952
Masuda J, Ogata J, Yutani C (1993) Smooth muscle cell proliferation and localization of macrophages and T cells in the occlusive intracranial major arteries in moyamoya disease. Stroke 24:1960–1967
Schievink WI, Prakash UBS, Piepgras DG, Mokri B (1994) α1-Antitrypsin deficiency in intracranial aneurysms and cervical artery dissection. Lancet 343:452–453
Schievink WI, Katzmann JA, Piepgras DG, Schaid DJ (1996) Alpha-1-antitrypsin phenotypes among patients with intracranial aneurysms. J Neurosurg 84:781–784
Schievink WI, Meyer FB, Parisi JE, Wijdicks EFM (1998) Fibromuscular dysplasia of the internal carotid artery associated with α1-antitrypsin deficiency. Neurosurgery 43:229–234
Soriano SG, Cowan DB, Proctor MR, Scott RM (2002) Levels of soluble adhesion molecules are elevated in the cerebrospinal fluid of children with moyamoya disease. Neurosurgery 50:544–549
St Jean P, Hart B, Webster M, Steed D, Adamson J, Powell J, Ferrell R (1996) Alpha-1-antitrypsin deficiency in aneurysmal disease. Hum Hered 46:92–97
Yamamoto M, Aoyagi M, Tajima S, Wachi H, Fukai N, Matsushima Y, Yamamoto K (1997) Increase in elastin gene expression and protein synthesis in arterial smooth muscle cells derived from patients with moyamoya disease. Stroke 28:1733–1738
Yamamoto M, Aoyagi M, Fukai N, Matsushima Y, Yamamoto K (1998) Differences in cellular responses to mitogens in arterial smooth muscle cells derived from patients with moyamoya disease. Stroke 29:1188–1193
Yamamoto M, Aoyagi M, Fukai N, Matsushima Y, Yamamoto K (1999) Increase in prostaglandin E2 production by interleukin-1β in arterial smooth muscle cells derived from patients with moyamoya disease. Circ Res 85:912–918
Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, Abe H, Inoue TK, Ikezaki K, Matsushima T, Fukui M (2000) Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 31:930–935
Yonekawa Y, Ogata N (1992) Spontaneous occlusion of the circle of Willis (cerebrovascular moyamoya disease): with special reference to its disease entity and etiological controversy. Brain Dev 14:253–254
Yonekawa Y, Ogata N, Kaku Y, Taub E, Imhof HG (1997) Moyamoya disease in Europe: past and present status. Clin Neurol Neurosurg 99 [Suppl 2]:S58–S60
Acknowledgements
This work was supported by Grants from the Research on Cardiovascular Disease (12C-4), and the Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya disease) of the Ministry of Health, Labor and Welfare of Japan.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Amano, T., Inoha, S., Wu, CM. et al. Serum α1-antitrypsin level and phenotype associated with familial moyamoya disease. Childs Nerv Syst 19, 655–658 (2003). https://doi.org/10.1007/s00381-003-0799-9
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00381-003-0799-9