Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1. (Articolo in rivista)

Type
Label
  • Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1. (Articolo in rivista) (literal)
Anno
  • 2003-01-01T00:00:00+01:00 (literal)
Alternative label
  • Casella M*, Lucarelli M*, Simili M*, Beffy P*, Del Carratore R*, Minichilli F*, Chisari C.** (2003)
    Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1.
    in Cytogenetic and genome research (Print. ed.)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Casella M*, Lucarelli M*, Simili M*, Beffy P*, Del Carratore R*, Minichilli F*, Chisari C.** (literal)
Pagina inizio
  • 224 (literal)
Pagina fine
  • 229 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 100 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • questo lavoro, nato dalla collaborazione tra IFC e l’Istituto di Medicina Riabilitativa di Neuroscienze dell’Università di Pisa, dimostra la presenza di instabilità genomica,perdita di interi cromosomi in pazienti distrofici miotonici e ipotizza un ruolo della DMPK (proteina chinasi coinvolta nella distrofia miotonica ) nel controllo della mitosi. (literal)
Note
  • Scopu (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • *Institute of Clinical Physiology, CNR, Cellular Biology and Cytogenetics Unit, Pisa (Italy). ** Institute of Neurescience Universita’ di Pisa (literal)
Titolo
  • Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1. (literal)
Abstract
  • Myotonic Dystrophy type 1 (DM1) is one of the many inherited human diseases whose molecular defect is the expansion of a trinucleotide DNA sequence. DM1 shares with fragile X syndrome (FMR1), another \"unstable triplet syndrome\", several molecular features not present in the remaining triplet diseases. As FMR1 is also characterised by chromosome instability at the site of the expanded triplet, lymphocytes from DM1 patients and healthy donors were cultured for micronucleus (MN) analysis, in order to verify if DM1 is also prone to chromosome instability. A FISH analysis was also carried out to detect the presence of centromeric sequences in the observed MN. The data indicate that DM1 patients present a percentage of centromere-positive MN significantly higher than controls, suggesting that chromosome loss is the main mechanism underlying the origin of the increased spontaneous instability. To further assess the proneness to instability of cells of DM1 patients, cultures from patients and controls were treated in vitro with growing concentrations of two different mutagens: colcemid, a \"pure\" aneugen compound whose target is tubulin, and mytomicin C, a strong clastogen. The results show that the patient group is significantly less sensitive to colcemid. These data, together with FISH analysis, suggest the presence, in DM1 patients, of an already damaged tubulin, which becomes no more sensitive to the effect of colcemid and which could be the main defect underlying the aneugenic effects in DM1. (literal)
Prodotto di
Autore CNR
Insieme di parole chiave

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
Insieme di parole chiave di
data.CNR.it