http://www.cnr.it/ontology/cnr/individuo/prodotto/ID23651
Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1. (Articolo in rivista)
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- 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)
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- Casella M*, Lucarelli M*, Simili M*, Beffy P*, Del Carratore R*, Minichilli F*, Chisari C.** (literal)
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- questo lavoro, nato dalla collaborazione tra IFC e lIstituto di Medicina Riabilitativa di Neuroscienze dellUniversità 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)
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- *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)
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