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nervous system disease RNA decay

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https://www.readbyqxmd.com/read/27071691/the-exon-junction-complex-in-neural-development-and-neurodevelopmental-disease
#1
REVIEW
J J McMahon, E E Miller, D L Silver
Post-transcriptional mRNA metabolism has emerged as a critical regulatory nexus in proper development and function of the nervous system. In particular, recent studies highlight roles for the exon junction complex (EJC) in neurodevelopment. The EJC is an RNA binding complex composed of 3 core proteins, EIF4A3 (DDX48), RBM8A (Y14), and MAGOH, and is a major hub of post-transcriptional regulation. Following deposition onto mRNA, the EJC serves as a platform for the binding of peripheral factors which together regulate splicing, nonsense mediated decay, translation, and RNA localization...
April 9, 2016: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/24027313/human-astrocytic-cells-support-persistent-coxsackievirus-b3-infection
#2
Xiaowei Zhang, Zhenhua Zheng, Bo Shu, Xijuan Liu, Zhenfeng Zhang, Yan Liu, Bingke Bai, Qinxue Hu, Panyong Mao, Hanzhong Wang
Enteroviruses can frequently target the human central nervous system to induce a variety of neurological diseases. Although enteroviruses are highly cytolytic, emerging evidence has shown that these viruses can establish persistent infections both in vivo and in vitro. Here, we investigated the susceptibility of three human brain cell lines, CCF-STTG1, T98G, and SK-N-SH, to infection with three enterovirus serotypes: coxsackievirus B3 (CVB3), enterovirus 71, and coxsackievirus A9. Persistent infection was observed in CVB3-infected CCF-STTG1 cells, as evidenced by prolonged detection of infectious virions, viral RNA, and viral antigens...
November 2013: Journal of Virology
https://www.readbyqxmd.com/read/23673382/upregulation-of-a-small-vault-rna-svtrna2-1a-is-an-early-event-in-parkinson-disease-and-induces-neuronal-dysfunction
#3
Elena Miñones-Moyano, Marc R Friedländer, Joan Pallares, Birgit Kagerbauer, Sílvia Porta, Georgia Escaramís, Isidre Ferrer, Xavier Estivill, Eulàlia Martí
MicroRNAs (miRNAs) and other small non-coding RNAs (sncRNAs) are post-transcriptional regulators of gene expression, playing key roles in neuronal development, plasticity, and disease. Transcriptome deregulation caused by miRNA dysfunction has been associated to neurodegenerative diseases. Parkinson disease (PD) is the second most common neurodegenerative disease showing deregulation of the coding and small non-coding transcriptome. On profiling sncRNA in PD brain areas differently affected, we found that upregulation of a small vault RNA (svtRNA2-1a) is widespread in PD brains, occurring early in the course of the disease (at pre-motor stages)...
July 2013: RNA Biology
https://www.readbyqxmd.com/read/23357783/regulation-of-gene-expression-in-mammalian-nervous-system-through-alternative-pre-mrna-splicing-coupled-with-rna-quality-control-mechanisms
#4
REVIEW
Karen Yap, Eugene V Makeyev
Eukaryotic gene expression is orchestrated on a genome-wide scale through several post-transcriptional mechanisms. Of these, alternative pre-mRNA splicing expands the proteome diversity and modulates mRNA stability through downstream RNA quality control (QC) pathways including nonsense-mediated decay (NMD) of mRNAs containing premature termination codons and nuclear retention and elimination (NRE) of intron-containing transcripts. Although originally identified as mechanisms for eliminating aberrant transcripts, a growing body of evidence suggests that NMD and NRE coupled with deliberate changes in pre-mRNA splicing patterns are also used in a number of biological contexts for deterministic control of gene expression...
September 2013: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/23173980/molecular-genetic-analysis-of-16-xp-c-patients-from-germany-environmental-factors-predominately-contribute-to-phenotype-variations
#5
Annika Schäfer, Lars Hofmann, Alexei Gratchev, Petra Laspe, Steffen Schubert, Anke Schürer, Andreas Ohlenbusch, Mladen Tzvetkov, Christian Hallermann, Jörg Reichrath, Michael P Schön, Steffen Emmert
Patients belonging to xeroderma pigmentosum (XP) complementation group C comprise one-third of all XP patients. Only four major reports compiled larger groups of XP-C patients from southern Europe (12 pts), North America (16 pts) and Africa (14 and 56 pts) as well as their genetic background (46 XPC mutations). We identified 16 XP-C patients from Germany. Interestingly, only five patients exhibited severe sun sensitivity. The mean age of XP diagnosis was 9.4 years, and the median age of the first skin cancer was 7 years...
January 2013: Experimental Dermatology
https://www.readbyqxmd.com/read/23069192/homozygous-sall1-mutation-causes-a-novel-multiple-congenital-anomaly-mental-retardation-syndrome
#6
Julia Vodopiutz, Heinz Zoller, Aimée L Fenwick, Richard Arnhold, Max Schmid, Daniela Prayer, Thomas Müller, Andreas Repa, Arnold Pollak, Christoph Aufricht, Andrew O M Wilkie, Andreas R Janecke
OBJECTIVE: To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation. STUDY DESIGN: Both siblings were clinically characterized and homozygosity mapping and sequencing of candidate genes were applied. The contribution of nonsense-mediated messenger RNA (mRNA) decay to the expression of mutant mRNA in fibroblasts of a healthy carrier and a control was studied by pyrosequencing...
March 2013: Journal of Pediatrics
https://www.readbyqxmd.com/read/22180311/the-importance-of-celf-control-molecular-and-biological-roles-of-the-cug-bp-elav-like-family-of-rna-binding-proteins
#7
REVIEW
Twishasri Dasgupta, Andrea N Ladd
RNA processing is important for generating protein diversity and modulating levels of protein expression. The CUG-BP, Elav-like family (CELF) of RNA-binding proteins regulate several steps of RNA processing in the nucleus and cytoplasm, including pre-mRNA alternative splicing, C to U RNA editing, deadenylation, mRNA decay, and translation. In vivo, CELF proteins have been shown to play roles in gametogenesis and early embryonic development, heart and skeletal muscle function, and neurosynaptic transmission...
January 2012: Wiley Interdisciplinary Reviews. RNA
https://www.readbyqxmd.com/read/22036171/mutations-in-polr3a-and-polr3b-encoding-rna-polymerase-iii-subunits-cause-an-autosomal-recessive-hypomyelinating-leukoencephalopathy
#8
Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun-Ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Hiroshi Doi, Kazuhiro Ogata, Ken Inoue, Naomichi Matsumoto
Congenital hypomyelinating disorders are a heterogeneous group of inherited leukoencephalopathies characterized by abnormal myelin formation. We have recently reported a hypomyelinating syndrome characterized by diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). We performed whole-exome sequencing of three unrelated individuals with HCAHC and identified compound heterozygous mutations in POLR3B in two individuals. The mutations include a nonsense mutation, a splice-site mutation, and two missense mutations at evolutionally conserved amino acids...
November 11, 2011: American Journal of Human Genetics
https://www.readbyqxmd.com/read/21412941/carpenter-syndrome-extended-rab23-mutation-spectrum-and-analysis-of-nonsense-mediated-mrna-decay
#9
Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elcioglu, Michael T Gabbett, Louanne Hudgins, Jane A Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O M Wilkie
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases. In 15 out of 16 families previously reported, the disease was caused by homozygosity for truncating mutations, and currently only a single missense mutation has been identified in a compound heterozygote. Here, we describe a further 8 independent families comprising 10 affected individuals with Carpenter syndrome, who were positive for mutations in RAB23...
April 2011: Human Mutation
https://www.readbyqxmd.com/read/21214571/gangliosides-are-essential-in-the-protection-of-inflammation-and-neurodegeneration-via-maintenance-of-lipid-rafts-elucidation-by-a-series-of-ganglioside-deficient-mutant-mice
#10
Yuhsuke Ohmi, Orie Tajima, Yuki Ohkawa, Yoshio Yamauchi, Yasuo Sugiura, Keiko Furukawa, Koichi Furukawa
Gangliosides are considered to be involved in the maintenance and repair of nervous tissues. Recently, novel roles of gangliosides in the regulation of complement system were reported by us. In this study, we compared complement activation, inflammatory reaction and disruption of glycolipid-enriched microdomain (GEM)/rafts among various mutant mice of ganglioside synthases, i.e. GM2/GD2 synthase knockout (KO), GD3 synthase KO, double KO (DKO) of these two enzymes and wild type. Up-regulation of complement-related genes, deposits of C1q, proliferation of astrocytes and infiltration of microglia also showed similar gradual severity depending on the defects in ganglioside compositions...
March 2011: Journal of Neurochemistry
https://www.readbyqxmd.com/read/20018737/gangliosides-play-pivotal-roles-in-the-regulation-of-complement-systems-and-in-the-maintenance-of-integrity-in-nerve-tissues
#11
Yuhsuke Ohmi, Orie Tajima, Yuki Ohkawa, Atsushi Mori, Yasuo Sugiura, Keiko Furukawa, Koichi Furukawa
Gangliosides are considered to be essential in the maintenance and repair of nervous tissues; however, the mechanisms for neurodegeneration caused by ganglioside defects are unknown. We examined gene expression profiles in double knockout (DKO) mice of GM2/GD2 synthase and GD3 synthase genes and showed that the majority of complement genes and their receptors were up-regulated in cerebellum in DKO mice. Inflammatory reactions were demonstrated in those tissues by measuring up-regulated inflammatory cytokines, indicating the presence of complement activation and inflammation as reported in Alzheimer's disease...
December 29, 2009: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/19406203/micro-rna-abundance-and-stability-in-human-brain-specific-alterations-in-alzheimer-s-disease-temporal-lobe-neocortex
#12
Prerna Sethi, Walter J Lukiw
Micro-RNA (miRNA) mediated regulation of messenger RNA (mRNA) complexity in the central nervous system (CNS) is emerging as a critical factor in the control of CNS-specific gene expression during development, plasticity, aging and disease. In these studies, miRNA array and Northern blot based tracking of specific miRNA abundances and decay kinetics in human neural (HN) cells in primary culture and in short post-mortem interval (PMI, approximately 1h) human brain tissues showed a limited stability and relatively short half-life ( approximately 1-3...
August 7, 2009: Neuroscience Letters
https://www.readbyqxmd.com/read/19005389/molecular-genetic-analysis-in-a-case-of-ganglioglioma-identification-of-a-new-mutation
#13
Antonio De Tommasi, Sabino Luzzi, Pietro I D'Urso, Claudio De Tommasi, Nicoletta Resta, Pasqualino Ciappetta
OBJECTIVE: Ganglioglioma is a primary central nervous system low-grade tumor composed of mixed populations of glial and neuroepithelial elements. METHODS: The authors report a case of ganglioglioma in a patient affected by Peutz-Jeghers syndrome, an autosomal dominant disease with varying expressions and incomplete penetrance responsible for an increased risk of gastrointestinal and other malignant tumor forms. RESULTS: The polymerase chain reaction products of exon 6 of STK11/LKB1 showed an abnormal pattern in the single-strand conformation polymorphism analysis...
November 2008: Neurosurgery
https://www.readbyqxmd.com/read/18628786/axonal-neuropathy-with-unusual-pattern-of-amyotrophy-and-alacrima-associated-with-a-novel-aaas-mutation-p-leu430phe
#14
Katrin Koehler, Knut Brockmann, Manuela Krumbholz, Barbara Kind, Carsten Bönnemann, Jutta Gärtner, Angela Huebner
The triple A syndrome is caused by autosomal recessively inherited mutations in the AAAS gene and is characterized by achalasia, alacrima and adrenal insufficiency as well as progressive neurological impairment. We report on a 14-year-old girl with slowly progressive axonal motor neuropathy with conspicuous muscle wasting of hypothenars and calves as well as alacrima. The mutation analysis of the AAAS gene revealed a compound heterozygous mutation: a c.251G>A mutation in exon 2 that had been reported previously, and a novel c...
December 2008: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/18350359/-pseudodominant-inheritance-of-ataxia-with-ocular-apraxia-type-2-aoa2
#15
Ludger Schöls, Larissa Arning, Rebecca Schüle, Jörg T Epplen, Dagmar Timmann
Ataxia with ocular apraxia type 2 (AOA2) is an autosomal recessive, early onset ataxia caused by mutations in the senataxin (SETX) gene. Ocular apraxia and increased levels of alpha-fetoprotein are characteristic but not obligate markers of the disease. AOA2 is allelic with ALS4, a motor neuron disorder of early onset and autosomal dominant inheritance. We observed a two generation family with ataxia which started at age 14 and 17 in two sibs and at age 23 in their paternal uncle.Oculomotor disturbances included strabismus, saccadic pursuit and gaze evoked nystagmus...
April 2008: Journal of Neurology
https://www.readbyqxmd.com/read/16249883/truncation-of-the-cns-expressed-jnk3-in-a-patient-with-a-severe-developmental-epileptic-encephalopathy
#16
Sarah A Shoichet, Laurence Duprez, Olivier Hagens, Vicki Waetzig, Corinna Menzel, Thomas Herdegen, Susann Schweiger, Bernard Dan, Esther Vamos, Hans-Hilger Ropers, Vera M Kalscheuer
We have investigated the breakpoints in a male child with pharmacoresistant epileptic encephalopathy and a de novo balanced translocation t(Y;4)(q11.2;q21). By fluorescence in situ hybridisation, we have identified genomic clones from both chromosome 4 and chromosome Y that span the breakpoints. Precise mapping of the chromosome 4 breakpoint indicated that the c-Jun N-terminal kinase 3 (JNK3) gene is disrupted in the patient. This gene is predominantly expressed in the central nervous system, and it plays an established role in both neuronal differentiation and apoptosis...
January 2006: Human Genetics
https://www.readbyqxmd.com/read/15893582/rat-nicastrin-gene-cdna-isolation-mrna-variants-and-expression-pattern-analysis
#17
COMPARATIVE STUDY
Annamaria Confaloni, Alessio Crestini, Diego Albani, Paola Piscopo, Lorenzo Malvezzi Campeggi, Liana Terreni, Marco Tartaglia, Gianluigi Forloni
Nicastrin is a type 1 transmembrane glycoprotein that interacts with presenilin, Aph-1, and Pen-2 proteins to form a high molecular complex with gamma secretase activity. Then, nicastrin has a central role in presenilin-mediated processing of beta-amyloid precursor protein and in some aspects of Notch/glp-1 signaling in vivo. Here, we isolated a rat nicastrin cDNA and investigated gene expression in embryonic and adult rat tissues. The predicted amino acid sequence is comprised of 708 residues and showed a high degree of identity with other vertebrate orthologs...
May 20, 2005: Brain Research. Molecular Brain Research
https://www.readbyqxmd.com/read/15651351/-update-on-hereditary-neuropathy
#18
REVIEW
Masanori Nakagawa, Hiroshi Takashima
Hereditary neuropathies are classified into several subtypes according to clinical, electrophysiologic and pathologic findings. Recent genetic studies have revealed their phenotypic and genetic diversities. In the primary peripheral demyelinating neuropathies (CMT1), at least 15 genes have been associated with the disorders; altered dosage or point mutation of PMP22, GJB1, MPZ, EGR2, MTMR2, NDRG1, PRX, SOX10, GDAP1 and MTMR13/SBF2. In the primary peripheral axonal neuropathies (CMT2), at least 10 genes have been associated with these disorders; NEFL, KIF1B, MFN2, GAN1, LMNA, RAB7, GARS, TDP1, APTX, and SETX...
November 2004: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/15469975/accordion-a-zebrafish-behavioral-mutant-has-a-muscle-relaxation-defect-due-to-a-mutation-in-the-atpase-ca2-pump-serca1
#19
Hiromi Hirata, Louis Saint-Amant, Julie Waterbury, Wilson Cui, Weibin Zhou, Qin Li, Daniel Goldman, Michael Granato, John Y Kuwada
When wild-type zebrafish embryos are touched at 24 hours post-fertilization (hpf), they typically perform two rapid alternating coils of the tail. By contrast, accordion (acc) mutants fail to coil their tails normally but contract the bilateral trunk muscles simultaneously to shorten the trunk, resulting in a pronounced dorsal bend. Electrophysiological recordings from muscles showed that the output from the central nervous system is normal in mutants, suggesting a defect in muscles is responsible. In fact, relaxation in acc muscle is significantly slower than normal...
November 2004: Development
https://www.readbyqxmd.com/read/12960822/delayed-central-nervous-system-virus-suppression-during-highly-active-antiretroviral-therapy-is-associated-with-hiv-encephalopathy-but-not-with-viral-drug-resistance-or-poor-central-nervous-system-drug-penetration
#20
Christian Eggers, Kurt Hertogs, Hans-Jörg Stürenburg, Jan van Lunzen, Hans-Jürgen Stellbrink
OBJECTIVE: HIV-1 encephalopathy (HIVE) is associated with high levels of viral RNA in the central nervous system (CNS). Highly active antiretroviral therapy (HAART) effectively reduces HIV replication in both plasma and cerebrospinal fluid (CSF). Some individuals, however, exhibit delayed CSF HIV RNA suppression in the presence of rapid plasma responses. We investigated the reasons for this discrepancy. DESIGN: CSF and plasma were collected prospectively in paired samples before and once or several times during HAART in 40 HIV-positive subjects...
September 5, 2003: AIDS
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