title: SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis.
abstract: The mutated Cu,Zn-superoxide dismutase gene (SOD1) (E.C. No. 1.15.1.1) is generally recognized as a pathological cause of 20% of the familial form of Amyotrophic Lateral Sclerosis (ALS). However, several pieces of evidence also show that wild-type SOD1, under conditions of cellular stress, is implicated in a significant fraction of sporadic ALS cases, which represent 90% of ALS patients. Herein, we describe an abnormally high level of SOD1 transcript in spinal cord, brain stem and lymphocytes of sporadic ALS patients. Protein expression studies show a similar or lower amount of SOD1 in affected brain areas and lymphocytes, respectively. No differences are found in brain regions (cerebellum and non-motor cerebral cortex) not involved in the ALS neurodegenerative processes. In this report, cell and disease specificity are shown since no mRNA SOD1 increase is observed in sporadic ALS fibroblasts or in lymphocytes of patients affected by Alzheimer's disease. These findings provide new insight and understanding of the pathologic causes of sporadic forms of ALS and allow a possible explanation for the molecular involvement of wild-type SOD1.
authors.affiliation: Laboratory of Experimental Neurobiology, IRCCS, Neurological Institute "C. Mondino", Pavia, Italy.
authors.forename: Stella
authors.initials: S
authors.lastname: Gagliardi
authors.forename: Emanuela
authors.initials: E
authors.lastname: Cova
authors.forename: Annalisa
authors.initials: A
authors.lastname: Davin
authors.forename: Stefania
authors.initials: S
authors.lastname: Guareschi
authors.forename: Kenneth
authors.initials: K
authors.lastname: Abel
authors.forename: Elena
authors.initials: E
authors.lastname: Alvisi
authors.forename: Umberto
authors.initials: U
authors.lastname: Laforenza
authors.forename: Roberta
authors.initials: R
authors.lastname: Ghidoni
authors.forename: John Richard
authors.initials: JR
authors.lastname: Cashman
authors.forename: Mauro
authors.initials: M
authors.lastname: Ceroni
authors.forename: Cristina
authors.initials: C
authors.lastname: Cereda
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D000704:Analysis of Variance; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009420:Nervous System / Q000378:metabolism / Q000473:pathology; D012333:RNA, Messenger / Q000378:metabolism*; D013116:Spinal Cord / Q000378:metabolism* / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism; D000072105:Superoxide Dismutase-1
chemical_list: D012333:RNA, Messenger; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1