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https://www.readbyqxmd.com/read/29327642/effects-of-arm-cycling-exercise-in-spinal-muscular-atrophy-type-ii-patients-a-pilot-study
#1
Gamze Bora, Şulenur Subaşı-Yıldız, Ayşe Yeşbek-Kaymaz, Numan Bulut, İpek Alemdaroğlu, Öznur Tunca-Yılmaz, Haluk Topaloğlu, Aynur Ayşe Karaduman, Hayat Erdem-Yurter
Exercise studies in neuromuscular diseases like spinal muscular atrophy (SMA), a devastating disease caused by survival of motor neuron 1 ( SMN1) gene mutations, are drawing attention due to its beneficial effects. In this study, we presented a constructed arm cycling exercise protocol and evaluated the benefits on SMA patients. Five SMA type II patients performed 12 weeks of supervised arm cycling exercise. The physical functions were evaluated together with the SMN2 copy numbers, SMN protein levels, insulin-like growth factor 1(IGF1) and binding protein 3 (IGFBP3) levels...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29316633/investigation-of-new-morpholino-oligomers-to-increase-survival-motor-neuron-protein-levels-in-spinal-muscular-atrophy
#2
Agnese Ramirez, Sebastiano G Crisafulli, Mafalda Rizzuti, Nereo Bresolin, Giacomo P Comi, Stefania Corti, Monica Nizzardo
Spinal muscular atrophy (SMA) is an autosomal-recessive childhood motor neuron disease and the main genetic cause of infant mortality. SMA is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene, which results in SMN protein deficiency. Only one approved drug has recently become available and allows for the correction of aberrant splicing of the paralogous SMN2 gene by antisense oligonucleotides (ASOs), leading to production of full-length SMN protein. We have already demonstrated that a sequence of an ASO variant, Morpholino (MO), is particularly suitable because of its safety and efficacy profile and is both able to increase SMN levels and rescue the murine SMA phenotype...
January 6, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29313812/pathogenic-commonalities-between-spinal-muscular-atrophy-and-amyotrophic-lateral-sclerosis-converging-roads-to-therapeutic-development
#3
REVIEW
Melissa Bowerman, Lyndsay M Murrray, Frédérique Scamps, Bernard L Schneider, Rashmi Kothary, Cédric Raoul
Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene whilst ALS, albeit being mostly sporadic, can also be caused by mutations within genes, including superoxide dismutase 1 (SOD1), Fused in Sarcoma (FUS), TAR DNA-binding protein 43 (TDP-43) and chromosome 9 open reading frame 72 (C9ORF72)...
December 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29281826/converging-mechanisms-of-p53-activation-drive-motor-neuron-degeneration-in-spinal-muscular-atrophy
#4
Christian M Simon, Ya Dai, Meaghan Van Alstyne, Charalampia Koutsioumpa, John G Pagiazitis, Joshua I Chalif, Xiaojian Wang, Joseph E Rabinowitz, Christopher E Henderson, Livio Pellizzoni, George Z Mentis
The hallmark of spinal muscular atrophy (SMA), an inherited disease caused by ubiquitous deficiency in the SMN protein, is the selective degeneration of subsets of spinal motor neurons. Here, we show that cell-autonomous activation of p53 occurs in vulnerable but not resistant motor neurons of SMA mice at pre-symptomatic stages. Moreover, pharmacological or genetic inhibition of p53 prevents motor neuron death, demonstrating that induction of p53 signaling drives neurodegeneration. At late disease stages, however, nuclear accumulation of p53 extends to resistant motor neurons and spinal interneurons but is not associated with cell death...
December 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/29220503/downregulation-of-survivin-contributes-to-cell-cycle-arrest-during-postnatal-cardiac-development-in-a-severe-spinal-muscular-atrophy-mouse-model
#5
Lei Sheng, Bo Wan, Pengchao Feng, Junjie Sun, Frank Rigo, C Frank Bennett, Martin Akerman, Adrian R Krainer, Yimin Hua
Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive degeneration of spinal-cord motor neurons, leading to atrophy of skeletal muscles. However, accumulating evidence indicates that it is a multi-system disorder, particularly in its severe forms. Several studies delineated structural and functional cardiac abnormalities in SMA patients and mouse models, yet the abnormalities have been primarily attributed to autonomic dysfunction. Here, we show in a severe mouse model that its cardiomyocytes undergo G0/G1 cell-cycle arrest and enhanced apoptosis during postnatal development...
December 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29217620/risk-of-second-malignant-neoplasm-and-mortality-in-patients-with-rheumatoid-arthritis-treated-with-biological-dmards-a-danish-population-based-cohort-study
#6
Lene Dreyer, René L Cordtz, Inger Marie J Hansen, Lars Erik Kristensen, Merete L Hetland, Lene Mellemkjaer
OBJECTIVE: To study the risk of a second malignant neoplasm (SMN) and mortality in patients with rheumatoid arthritis (RA) with a history of a primary cancer diagnosis and treated with biological disease-modifying antirheumatic drugs (bDMARD). METHODS: Among patients with RA (n=15 286) registered in the DANBIO Register during 2000-2011, 1678 had a primary cancer according to the Danish Cancer Registry. HRs for SMN and death were calculated. RESULTS: During follow-up there were 279 patients with RA contributing person-years to the bDMARDs use before their primary cancer diagnosis, 220 to the only after, 92 to the both before and after, while 1203 patients with RA contributed to the non-use strata...
December 7, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29209912/restoration-of-smn-expression-in-mesenchymal-stem-cells-derived-from-gene-targeted-patient-specific-ipscs
#7
Mai Feng, Cong Liu, Yan Xia, Bo Liu, Miaojin Zhou, Zhuo Li, Qianru Sun, Zhiqing Hu, Yanchi Wang, Lingqian Wu, Xionghao Liu, Desheng Liang
Spinal muscular atrophy (SMA) is primarily a neurodegenerative disease caused by the homozygous deletion of the survival motor neuron 1 (SMN1) gene, thereby reducing SMN protein expression. Mesenchymal stem cells (MSCs) have been implicated in the treatment of SMA. In the present study, we overexpressed exogenous SMN1 at the ribosomal DNA (rDNA) locus of induced pluripotent stem cells (iPSCs) generated from a SMA patient using an rDNA-targeting vector. The gene-targeted patient iPSCs differentiated into MSCs (SMN1-MSCs)...
December 5, 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/29201790/therapy-targeting-stem-cell-in-patients-with-decompensated-cirrhosis-of-liver-in-a-tertiary-treatment-care-center-of-bangladesh
#8
Mamun Al Mahtab, Sheikh Mn Alam, Ahmed L Moben, Ruksana Raihan, Mohammad A Alam, Mohammad A Rahim, Mohammad H Uddin, Sheikh Mohammad Fazle Akbar
Introduction: Decompensated cirrhosis is associated with significantly high mortality resulting from hepatic failure, and liver transplantation seems to be the only viable indication for its management. The objective of this study is to assess if granulocyte colony-stimulating factor (G-CSF), a stimulatory of stem cell in vivo, may be of any benefit for patients with decompensated cirrhosis of liver. Materials and methods: Seventeen consecutive patients with decompensated cirrhosis of liver were recruited in this prospective study...
January 2017: Euroasian Journal of Hepato-Gastroenterology
https://www.readbyqxmd.com/read/29194869/muscle-strength-and-motor-function-throughout-life-in-a-cross-sectional-cohort-of-180-patients-with-sma-types-1c-4
#9
Renske I Wadman, Camiel A Wijngaarde, Marloes Stam, Bart Bartels, Louise A M Otto, Henny H Lemmink, Marja A G C Schoenmakers, Inge Cuppen, Leonard H van den Berg, W Ludo van der Pol
BACKGROUND: Natural history studies in SMA have primarily focused on infants and children. Natural history studies encompassing all age groups and SMA types are important for the interpretation of treatment effects of recently introduced SMN augmenting therapies. METHODS: We conducted a cross-sectional study to investigate muscle strength, Hammersmith Functional Motor Scale (Expanded) scores and the patterns of muscle weakness in relation to age and SMA type. RESULTS: We included 180 patients with SMA types 1-4 in the age range 1-77...
November 30, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29187847/a-multilayered-control-of-the-human-survival-motor-neuron-gene-expression-by-alu-elements
#10
REVIEW
Eric W Ottesen, Joonbae Seo, Natalia N Singh, Ravindra N Singh
Humans carry two nearly identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Mutations or deletions of SMN1, which codes for SMN, cause spinal muscular atrophy (SMA), a leading genetic disease associated with infant mortality. Aberrant expression or localization of SMN has been also implicated in other pathological conditions, including male infertility, inclusion body myositis, amyotrophic lateral sclerosis and osteoarthritis. SMN2 fails to compensate for the loss of SMN1 due to skipping of exon 7, leading to the production of SMNΔ7, an unstable protein...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29179629/spinal-cord-injury-disrupts-resting-state-networks-in-the-human-brain
#11
Ammar Hawasli, Jerrel Rutlin, Jarod L Roland, Rory Murphy, Sheng-Kwei Song, Eric Leuthardt, Joshua Shimony, Wilson Z Ray
Despite 253,000 spinal cord injury (SCI) patients in America, little is known about how SCI affects brain networks. Spinal magnetic resonance imaging (MRI) provides only structural information with no insight into functional connectivity. Resting-state functional MRI (RS-fMRI) quantifies network connectivity through the identification of resting-state networks (RSNs) and allows detection of functionally-relevant changes during disease. Given the robust network of spinal cord afferents to the brain, we hypothesized SCI produces meaningful changes in brain RSNs...
November 27, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29167380/self-oligomerization-regulates-stability-of-survival-motor-neuron-smn-protein-isoforms-by-sequestering-an-scf-slmb-degron
#12
Kelsey M Gray, Kevin A Kaifer, David Baillat, Ying Wen, Thomas R Bonacci, Allison D Ebert, Amanda C Raimer, Ashlyn M Spring, Sara Ten Have, Jacqueline J Glascock, Kushol Gupta, Gregory D Van Duyne, Michael J Emanuele, Angus I Lamond, Eric J Wagner, Christian L Lorson, A Gregory Matera
Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1 Expression of a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein isoform, SMNΔ7. Although SMN2 exon skipping is the principal contributor to SMA severity, mechanisms governing stability of SMN isoforms are poorly understood. We used a Drosophila model system and label-free proteomics to identify the SCF(Slmb) ubiquitin E3 ligase complex as a novel SMN binding partner. SCF(Slmb) interacts with a phospho-degron embedded within the human and fruitfly SMN YG-box oligomerization domains...
November 22, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29160009/mirna-in-spinal-muscular-atrophy-pathogenesis-and-therapy
#13
REVIEW
Francesca Magri, Fiammetta Vanoli, Stefania Corti
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by the selective death of lower motor neurons in the brain stem and spinal cord. SMA is caused by mutations in the survival motor neuron 1 gene (SMN1), leading to the reduced expression of the full-length SMN protein. microRNAs (miRNAs) are small RNAs that regulate post-transcriptional gene expression. Recent findings have suggested an important role for miRNAs in the pathogenesis of motor neuron diseases, including SMA...
November 21, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29134612/altered-connectivity-patterns-among-resting-state-networks-in-patients-with-ischemic-white-matter-lesions
#14
Ju-Rong Ding, Xin Ding, Bo Hua, Xingzhong Xiong, Yuqiao Wen, Zhongxiang Ding, Qingsong Wang, Paul Thompson
White matter lesions (WMLs) have been associated with cognitive and motor decline. Resting state networks (RSNs) are spatially coherent patterns in the human brain and their interactions sustain our daily function. Therefore, investigating the altered intra- and inter-network connectivity among the RSNs may help to understand the association of WMLs with impaired cognitive and motor function. Here, we assessed alterations in functional connectivity patterns based on six well-defined RSNs-the default mode network (DMN), dorsal attention network (DAN), frontal-parietal control network (FPCN), auditory network (AN), sensory motor network (SMN) and visual network (VN)-in 15 patients with ischemic WMLs and 15 controls...
November 14, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29114948/excess-mortality-among-10-year-survivors-of-classical-hodgkin-lymphoma-in-adolescents-and-young-adults
#15
Ana C Xavier, Narendranath Epperla, Jeffrey W Taub, Luciano J Costa
Adolescents and young adults (AYA) surviving classical Hodgkin lymphoma (cHL) risk long term fatal treatment-related toxicities. We utilized the Surveillance, Epidemiology and End Results (SEER) program to compare excess mortality rate (EMR-observed minus expected mortality) for 10-year survivors of AYA cHL diagnosed in 1973-1992 and 1993-2003 eras. The 15-year EMR reduced from 4.88% to 2.19% while the 20-year EMR reduced from 9.46% to 4.07% between eras. Survivors of stages 1-2 had lower EMR than survivors of stages 3-4 cHL in the 1993-2003 but not in the 1973-1992 era...
November 8, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29103974/optimization-of-a-series-of-heterocycles-as-survival-motor-neuron-gene-transcription-enhancers
#16
Sungwoon Choi, Alyssa N Calder, Eliza H Miller, Kierstyn P Anderson, Dawid K Fiejtek, Anne Rietz, Hongxia Li, Jonathan J Cherry, Kevin M Quist, Xuechao Xing, Marcie A Glicksman, Gregory D Cuny, Christian L Lorson, Elliot A Androphy, Kevin J Hodgetts
Spinal muscular atrophy (SMA) is a neurodegenerative disorder that results from mutations in the SMN1 gene, leading to survival motor neuron (SMN) protein deficiency. One therapeutic strategy for SMA is to identify compounds that enhance the expression of the SMN2 gene, which normally only is a minor contributor to functional SMN protein production, but which is unaffected in SMA. A recent high-throughput screening campaign identified a 3,4-dihydro-4-phenyl-2(1H)-quinolinone derivative (2) that increases the expression of SMN2 by 2-fold with an EC50 = 8...
October 26, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/29103507/drug-release-and-antioxidant-antibacterial-activities-of-silymarin-zein-nanoparticle-bacterial-cellulose-nanofiber-composite-films
#17
Yi-Hsuan Tsai, Yu-Ning Yang, Yi-Cheng Ho, Min-Lang Tsai, Fwu-Long Mi
Bacterial cellulose (BC) is a biopolymer composed of nanofibers which has excellent film-forming ability. However, BC do not have antibacterial or antioxidant activity, thus limiting the applicability of BC for food and biomedical applications. In this study, flavonoid silymarin (SMN) and zein were assembled into spherical SMN-Zein nanoparticles that could be effectively adsorbed onto BC nanofibers. SMN-Zein nanoparticles greatly changed the wettability and swelling property of BC films due to the formation of nanoparticles/nanofibers nanocomposites...
January 15, 2018: Carbohydrate Polymers
https://www.readbyqxmd.com/read/29102128/accelerated-degradation-of-sulfamethazine-in-water-by-vuv-uv-photo-fenton-process-impact-of-sulfamethazine-concentration-on-reaction-mechanism
#18
Dong Wen, Zhengdi Wu, Yubin Tang, Mengkai Li, Zhimin Qiang
The degradation of sulfamethazine (SMN) by VUV/UV photo-Fenton (VPF) process was investigated with a mini-fluidic VUV/UV photoreaction system. Compared with the conventional UV photo-Fenton process, the VPF process significantly enhanced the degradation and mineralization of SMN, because the VUV irradiation photolyzed H2O and accelerated the redox cycle of Fe(3+)/Fe(2+) to generate more reactive oxygen species (ROS). Initial pH and concentrations of SMN, H2O2, Fe(3+), inorganic anions (NO3(-), HCO3(-), and Cl(-)), and humic acid all considerably impacted SMN degradation in the VPF process...
October 18, 2017: Journal of Hazardous Materials
https://www.readbyqxmd.com/read/29096367/electrochemical-immunosensors-for-the-detection-of-survival-motor-neuron-smn-protein-using-different-carbon-nanomaterials-modified-electrodes
#19
Shimaa Eissa, Nawal Alshehri, Anas M Abdel Rahman, Majed Dasouki, Khalid M Abu Salah, Mohammed Zourob
Spinal muscular atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations in the survival motor neuron (SMN) 1 gene which encodes the SMN protein. Currently, definitive diagnosis relies on the demonstration of biallelic pathogenic variants in SMN1 gene. Therefore, there is an urgent unmet need to accurately quantify SMN protein levels for screening and therapeutic monitoring of symptomatic newborn and SMA patients, respectively. Here, we developed a voltammetric immunosensor for the sensitive detection of SMN protein based on covalently functionalized carbon nanofiber-modified screen printed electrodes...
October 10, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29091570/nusinersen-versus-sham-control-in-infantile-onset-spinal-muscular-atrophy
#20
RANDOMIZED CONTROLLED TRIAL
Richard S Finkel, Eugenio Mercuri, Basil T Darras, Anne M Connolly, Nancy L Kuntz, Janbernd Kirschner, Claudia A Chiriboga, Kayoko Saito, Laurent Servais, Eduardo Tizzano, Haluk Topaloglu, Már Tulinius, Jacqueline Montes, Allan M Glanzman, Kathie Bishop, Z John Zhong, Sarah Gheuens, C Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C De Vivo
BACKGROUND: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. METHODS: We conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy...
November 2, 2017: New England Journal of Medicine
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