Serum α1-antitrypsin level and phenotype associated with familial moyamoya disease
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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.
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.
These findings suggest that serum α1-AT level may be a marker, rather than an etiologic factor, indicating the progression of moyamoya disease.
KeywordsMoyamoya disease Alpha-1-antitrypsin
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.
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