Turkish Journal of Medical Sciences

Abstract: Aim: In this preliminary study, we aimed to analyze the effect of sodium butyrate (NB) and phenylbutyrate (PB), belonging to the class of histone deacetylase (HDAC) inhibitors, on lymphoblastoid cell lines established from spinal muscular atrophy (SMA) patients. Materials and Methods: Lymphoblastoid cell lines were established from one type I and two type III SMA patients. Following treatment of the cell lines by HDAC inhibitors, the levels of survival motor neuron 2 (SMN2) gene full length (fl-SMN2) transcripts were assessed by both standard and real time RT-PCR. To determine the levels of SMN protein, Western blot analysis was performed. Results: NB and PB, which are known to be effective in SMA fibroblasts, did not increase the levels of fl-SMN2 transcripts or protein in lymphoblastoid cell lines. Conclusions: Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines may not be suitable for studying the effect of at least some HDAC inhibitors on SMN2 gene expression.

Key Words: Spinal muscular atrophy, survival motor neuron gene, histone deacetylase inhibitors, treatment