At the alteration of Kidins220 protein levels impairs neuronal survival and development. The comprehensive ablation of Kidins220 led to embryonic death, which was associated to extensive apoptosis in the CNS and PNS and to cardiovascular abnormalities (Cesca et al., 2011, 2012). A partial reduction of Kidins220 levels was sufficient to bring about defects in spine turnover and synaptic plasticity, with considerable repercussions on larger functions including finding out and memory, when studied in adult mice (Wu et al., 2009, 2010; Ar alo et al., 2010; Duffy et al., 2011). Taken collectively, the outcomes of these studies strongly help the idea that alterations with the KIDINS220 gene andor the Kidins220 protein may possibly associate with human (neuro)pathologies. Even though the literature regarding this aspect of Kidins220 function continues to be limited, quite a few studies have started to investigate the genetic and molecular pathways linking Kidins220 towards the onset of many diseases. One example is, Kidins220 is overexpressed in human samples of melanoma (Liao et al., 2007, 2011), a tumor of neural crest origin, and of neuroblastoma (Rogers and Schor, 2013a,b; Jung et al., 2014), a cancer variety affecting the PNS. In both circumstances, Kidins220 behaves as an oncogene, affecting the capacity of cancer cells to survive, proliferate and migratemetastasize. Increased Kidins220 levels have also been observed in human Alzheimer’s Illness (AD) samples (L ezMen dez et al., 2013). Here, Kidins220 accumulated with hyperphosphorylated Tau protein, in all probability contributing for the defective NT signaling observed in this pathology. Alterations of KIDINS220 gene expression have already been found in quite a few genetic screens in humans. For instance, a microarray-based expression profiling of dopaminergic neurons isolated from the substantia nigra of Parkinson’s Illness (PD) patients revealed that Kidins220 levels had been considerably decreased in comparison to Alendronic acid Formula controls (Simunovic et al., 2009). One more study analyzed the blood transcriptome from Autism Spectrum Disorder (ASD) sufferers, and found improved levels of Kidins220 mRNA in ASD individuals. Intriguing, genes belonging to the NT pathways have been general essentially the most represented amongst the affected genes (Kong et al., 2012). Lastly, an extremely current study was performed on a little quantity of schizophrenia individuals, by indicates of high-coverageFrontiers in Cellular Neuroscience | www.frontiersin.orgMarch 2016 | Volume 10 | ArticleScholz-Starke and CescaKidins220ARMS in Neuronal PhysiologyTABLE 1 | Pathologies linked to mutations of the Kidins220 gene or alterations of Kidins220 protein levels. Disease Mutation Physiological effects Cell survival, anchorageindependent growthmetastasis N-type to S-type transition, NGF-mediated signaling, cell proliferation n.d. Decreased Kidins220 clearance and impaired NT signaling n.d. n.d. n.d. n.d. Organism ReferenceMelanoma NeuroblastomaIncreased levels Enhanced levelsHuman, mouse Human, mouseLiao et al. (2007, 2011) Rogers and Schor (2013a,b), Jung et al. (2014) Carvalho et al. (2014) L ez-Men dez et al. (2013) Simunovic et al. (2009) Kong et al. (2012) Pinto et al. (2014)a Kranz et al. (2015) and Malaspina et al. (2016)Pediatric high-grade glioma Alzheimer’s disease Parkinson’s illness Autism spectrum disorders Autism spectrum problems SchizophreniaIntragenic copy number breakpoint Elevated levels Lowered levels Copy number variation (raise) Deletion of genomic area Two missense HQNO Description polymorphisms (A1299G, A557V), one novel variant.
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