SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

Francesco Danilo Tiziano, Giovanni Neri, Cristina Beate Brahe, Al Patrizi, S Zappata, Ma Donati

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

38 Citazioni (Scopus)

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the homozygous absence of the telomeric copy of the survival motor neuron (SMNt) gene, due to deletion, gene conversion or point mutation. SMNt and its homologous centromeric copy (SMNc) encode the SMN protein, which is diffusely present in the cytoplasm and in dot-like structures, called gems, in the nucleus. We have studied the SMN protein in different cell cultures, including fibroblasts, amniocytes and CVS cells from SMA individuals and controls. By immunofluorescence analysis we found a marked reduction in the number of gems in fibroblasts, amniocytes and chorionic villus cells of all SMA patients and foetuses, independent of the type of the genetic defect. We also show that immunolocalisation of the SMN protein may be a useful tool for the characterisation of particular patients of uncertain molecular diagnosis.
Lingua originaleEnglish
pagine (da-a)301-309
Numero di pagine9
RivistaEuropean Journal of Human Genetics
Stato di pubblicazionePubblicato - 1999

Keywords

  • sma
  • smn

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