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Choroid Plexus Tumors
Published in Dongyou Liu, Tumors and Cancers, 2017
Focal chromosomal gains related to choroid plexus tumors include chromosomes 14q21–q22 (OTX2), 7q31.1 (LAMB1), 9q21.12 (TRPM3), and 20p12 (PLCB1). Additional focal alterations are identified in papillomas (e.g., gains of chromosomes 5q, 6q, 7, 8, 9, 11, 12, 15, 17, 18, 19, 20, and 21 and losses of chromosomes 2, 10, 13q, and 21q), in atypical papillomas (gains of chromosomes 5, 7, 8, 9, 11, 12, and 20, but not chromosomal losses), and in carcinomas (e.g., gains of chromosomes 1, 4, 8q, 9p, 12, 14q, 20q, and 21 and losses of chromosomes 3p, 5, 9q, 10q, 13q, 18q, 22q) [2].
Circular RNA PRKCI and microRNA-545 relate to sepsis risk, disease severity and 28-day mortality
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2020
Circ-PRKCI is produced from the PRKCI gene at 3q26.2 amplicon, which has been confirmed to act as a sponge of multiple miRNAs to promote tumor progression in various carcinomas. One recent study displays that circ-PRKCI targets miRNA-545 and miRNA-589 to increase proto-oncogene transcription factor E2F transcription factor 7 (E2F7) in lung adenocarcinoma [13]; Another interesting study illustrates that circ-PRKCI functions as a molecular sponge of miR-3680-3p to upregulate AKT expression, thereby stimulated cell migration and proliferation in esophageal squamous cell carcinoma [9]. Apart from the important role of circ-PRKCI in various carcinomas, it is also involved in multiple pathological processes of different diseases to affect organ injury. For instance, circ-PRKCI interacts with miR-1324/PLCB1 axis to repress cell migration and proliferation in congenital Hirschsprung's disease [14]. Meanwhile, it has been reported to attenuate H2O2-induced cytotoxicity in neuronal cells [4]. More importantly in sepsis, circ-PRKCI attenuates LPS-induced decrease of cell viability, increase of cell apoptosis as well as elevated productions of tumor necrosis factor (TNF)-α, interleukins (IL)-1β, IL-6, and IL-8 in HK2 cell via suppressing miR-545/ZEBs, suggesting that circ-PRKCI has good influence to relieve kidney injure and inflammatory injury induced by LPS in HK2 cells [11]. Taken together, circ-PRKCI is not only contribute to promoting tumor progression, but also devoted into impacting organ injury, including attenuating kidney injury and inflammation in sepsis.
Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era
Published in Journal of Neurogenetics, 2018
Jeffrey D. Calhoun, Gemma L. Carvill
In addition to family-based studies, chromosomal microarray studies in sporadic epilepsies facilitated identification of CNVs, particularly large deletions, as a significant contributor to AR epilepsy (Endris et al., 2010; Mefford et al., 2011). Chromosomal microarray was utilized to screen for candidate CNVs in a patient with malignant migrating partial seizures in infancy (now epilepsy of infancy with migrating focal seizures – EIMFS) and led to the identification of homozygous deletion of PLCB1 (Poduri et al., 2012). This proband presented with classic EIMFS with seizure onset at 6 months of age and seizures were refractory to multiple AEDs. Chromosomal microarray identified three CNVs, including homozygous deletion of chromosome 20p12.3 containing 5’ upstream DNA and the first three coding exons of PLCB1. Homozygous deletion of the same region of PLCB1 had previously been implicated in a child with EOEE, suggesting loss of PLCB1 expression can manifest as at least two partially overlapping clinical subtypes of EOEE (Kurian et al., 2010).
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype
Published in Journal of Neurogenetics, 2021
Antonio Gennaro Nicotera, Daniela Dicanio, Erica Pironti, Maria Bonsignore, Anna Cafeo, Stephanie Efthymiou, Patrizia Mondello, Vincenzo Salpietro, Henry Houlden, Gabriella Di Rosa
OS is a rare and severe disease affecting infants within the first 3 months of life. Tonic spasms are the most common seizures and can occur as a cluster or single episodes and be refractory to treatment. Focal and myoclonic seizures can also occur. The electroencephalogram (EEG) is characterized by a burst-suppression pattern both in waking and sleeping states (Mastrangelo & Leuzzi, 2012). OS phenotype caused by SLC25A22 mutations mostly overlaps with other OS forms associated with other genes’ mutations (i.e.: CDKL5 or ARX) (Sartori et al., 2011). It is featured by myoclonic seizures within the first month of life and late-onset tonic spasms, hypotonia, microcephaly, abnormal visual evoked potential (VEP), and electroretinogram (Mastrangelo & Leuzzi, 2012). EME is a rare epileptic encephalopathy characterized by erratic myoclonus and refractory partial seizures with neonatal or early infantile-onset and suppression-burst EEG pattern during sleep. EME may be caused by metabolic disorders, such as non-ketotic hyperglycinemia and organic acidemias, or genetic disorders due to mutations in ERBB4, SIK1, SLC25A22, KCNQ2 and GABRB2 genes (Giacomini et al., 2019; Mastrangelo & Leuzzi, 2012). MMPSI is a severe and rare epileptic encephalopathy. EEG abnormalities involve different regions of the brain, migrating from one region to another one and leading to focal seizures, which are typically multifocal, independent, and drug-resistant. To date, KCNT1, PLCB1, SCN1A, SCN8A, TBC1D24 and SLC25A22 are the genes associated with MMPSI (Poduri et al., 2013; Striano, Coppola, Zara, & Nabbout, 2014).