title: Cytoskeleton alterations of erythrocytes from patients with Fanconi's anemia.
abstract: Fanconi's anemia (FA) is a very rare genetically heterogeneous disease which has been hypothesized to be defective in the detoxification of reactive oxygen species. In this work we report the results obtained by morphometric and biochemical analyses on the red blood cells (RBCs) from FA patients. With respect to RBCs from healthy donors the following changes have been detected: (i) a variety of ultrastructural alterations, mainly surface blebbing typical of acanthocytes and stomatocytes; (ii) a significant quantitative increase of these altered forms; (iii) modifications of spectrin cytoskeleton network; (iv) an altered redox balance, e.g. a decreased catalase activity and significant variations in the GSSG/GSH ratio. We hypothesize that remodeling of the redox state occurring in FA patients results in cytoskeleton-associated alterations of red blood cell integrity and function.
authors.affiliation: Department of Ultrastructures, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy. malorni@mclink.it
authors.forename: W
authors.initials: W
authors.lastname: Malorni
authors.forename: E
authors.initials: E
authors.lastname: Straface
authors.forename: G
authors.initials: G
authors.lastname: Pagano
authors.forename: D
authors.initials: D
authors.lastname: Monti
authors.forename: A
authors.initials: A
authors.lastname: Zatterale
authors.forename: D
authors.initials: D
authors.lastname: Del Principe
authors.forename: I B
authors.initials: IB
authors.lastname: Deeva
authors.forename: C
authors.initials: C
authors.lastname: Franceschi
authors.forename: R
authors.initials: R
authors.lastname: Masella
authors.forename: L G
authors.initials: LG
authors.lastname: Korkina
mesh_terms: D000293:Adolescent; D000328:Adult; D002374:Catalase / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003599:Cytoskeleton / Q000648:ultrastructure*; D004910:Erythrocyte Membrane / Q000648:ultrastructure*; D004912:Erythrocytes / Q000378:metabolism* / Q000648:ultrastructure*; D005199:Fanconi Anemia / Q000097:blood*; D005978:Glutathione / Q000097:blood; D019803:Glutathione Disulfide / Q000097:blood; D006801:Humans; D008855:Microscopy, Electron, Scanning; D012016:Reference Values; D013049:Spectrin / Q000648:ultrastructure; D013482:Superoxide Dismutase / Q000097:blood; D013481:Superoxides / Q000097:blood; D015032:Zinc / Q000097:blood
chemical_list: D013481:Superoxides; D013049:Spectrin; D002374:Catalase; D013482:Superoxide Dismutase; D005978:Glutathione; D015032:Zinc; D019803:Glutathione Disulfide