Investigations of Microtubule-associated Protein 2 Gene Expression in Spinal Muscular Atrophy
Journal Title: The Journal of Pediatric Research - Year 2019, Vol 6, Issue 2
Abstract
Aim: Spinal muscular atrophy (SMA) is a devastating genetic disease in childhood andff is caused by the absence of functional survival motor neuron (SMN) protein, which leads to impairments of the cytoskeleton, especially in neurons. Dysregulation of actin dynamics have been linked to SMA patho mechanisms, however involvement of altered microtubule dynamics is largely unknown. In this study, we investigated differentially expressed microtubule-related genes using in vitro and in vivo SMA model systems. Materials and Methods: By focusing on microtubule-related genes, we re-analyzed publically available gene expression arrays, which were previously performed with induced pluripotent stem cell-derived motor neurons of SMA patients and the spinal cords of SMA mice. We found altered expressions of microtubule-associated protein 2 (MAP2), which was validated by real time reverse-transcription polymerase chain reaction using the SMN knock-down NSC34 cell line and the severe SMA mouse model. Results: We showed that the expression of MAP2 gene was significantly upregulated in both expression arrays. Upregulation was also detected in the brain and spinal cord tissues of severe SMA mice at different developmental stages. Conclusion: Our findings suggest that microtubule regulatory proteins may be altered in SMN depleted cells and further research is needed to elucidate the contribution of dysregulated microtubule dynamics towards SMA.
Authors and Affiliations
Gamze Bora, Ceren Sucularlı, Niko Hensel, Peter Claus, Hayat Erdem Yurter
Keywords
Related Articles
- EP ID EP49052
- DOI 10.4274/jpr.galenos.2019.71473
- Views 295
- Downloads 0
The Effect of Mother’s Lullaby on Preterm Infants’ Physiological Parameters
Aim: Inappropriate auditory stimulants lead to neonatal stress and changes in physiological parameters. Nowadays, particular emphasis is placed on the developmental aspects of the care of preterm infants. The lullaby is...
Identification of Substance Abuse Among Children in a Pediatric Emergency Department
Aim: Illicit substance use is a worldwide important public health problem with increasing substance abuse rates and decreasing starting age. In this study, our aim was to determine the complaints of the patients in pedia...
Open Globe Injury in Children
Aim: To evaluate retrospectively the epidemiologic data and outcomes of pediatric open globe injury (OGI). Materials and Methods: The medical records of all pediatric cases (<16 years old) diagnosed with OGI in İzmir Ka...
Visceral Leishmaniasis in Children in Southern Turkey: Evaluation of Clinical and Laboratory Findings and Liposomal Amphotericin B Treatment
Aim: Visceral leishmaniasis (VL) is a systemic infection that spreads hematogenously and affects the reticuloendothelial system by the infection of macrophages. VL occurs commonly in children, and only rarely in adults....
How Parents of Children with Cancer Seek Information Through Online Communities: A Netnography Study
Canan Sümeyra Gün, Selmin Şenol