title: Genetic analysis of the cystatin C gene in familial and sporadic ALS patients.
abstract: Bunina bodies, small eosinophilic intraneuronal inclusions, stain positive for cystatin C and are the only specific pathological hallmark of amyotrophic lateral sclerosis (ALS). We screened the cystatin C gene (CST3) for mutations in 57 sporadic ALS patients and 12 familial ALS cases that did not possess a SOD1 mutation. We detected the known polymorphism in exon 1, a G/A transition at +73, in both familial and sporadic ALS patients. However, the allelic and genotypic frequencies of the +73 G/A polymorphism did not differ between ALS patients and control samples. No other mutation was detected in the ALS patients. The results reported here indicate that there may not be a direct genetic link between cystatin C and ALS, and it may be that deficits occur in proteins that interact with cystatin C.
authors.affiliation: Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Gunma 371-8511, Japan. miwata@showa.gunma-u.ac.jp
authors.forename: Mitsunori
authors.initials: M
authors.lastname: Watanabe
authors.forename: Mandy
authors.initials: M
authors.lastname: Jackson
authors.forename: Masaki
authors.initials: M
authors.lastname: Ikeda
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Mizushima
authors.forename: Masakuni
authors.initials: M
authors.lastname: Amari
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Takatama
authors.forename: Shunsaku
authors.initials: S
authors.lastname: Hirai
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Ikeda
authors.forename: Masami
authors.initials: M
authors.lastname: Shizuka-Ikeda
authors.forename: Koichi
authors.initials: K
authors.lastname: Okamoto
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D016009:Chi-Square Distribution; D055316:Cystatin C; D015891:Cystatins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
chemical_list: C525030:CST3 protein, human; D055316:Cystatin C; D015891:Cystatins; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1