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"Spinal Muscular Atrophy"

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https://www.readbyqxmd.com/read/30120734/preconditioning-and-cellular-engineering-to-increase-the-survival-of-transplanted-neural-stem-cells-for-motor-neuron-disease-therapy
#1
REVIEW
Elena Abati, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti
Despite the extensive research effort that has been made in the field, motor neuron diseases, namely, amyotrophic lateral sclerosis and spinal muscular atrophies, still represent an overwhelming cause of morbidity and mortality worldwide. Exogenous neural stem cell-based transplantation approaches have been investigated as multifaceted strategies to both protect and repair upper and lower motor neurons from degeneration and inflammation. Transplanted neural stem cells (NSCs) exert their beneficial effects not only through the replacement of damaged cells but also via bystander immunomodulatory and neurotrophic actions...
August 17, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/30119719/genetic-therapies-for-inherited-neuromuscular-disorders
#2
REVIEW
Mariacristina Scoto, Richard Finkel, Eugenio Mercuri, Francesco Muntoni
Inherited neuromuscular disorders encompass a broad group of genetic conditions, and the discovery of these underlying genes has expanded greatly in the past three decades. The discovery of such genes has enabled more precise diagnosis of these disorders and the development of specific therapeutic approaches that target the genetic basis and pathophysiological pathways. Such translational research has led to the approval of two genetic therapies by the US Food and Drug Administration: eteplirsen for Duchenne muscular dystrophy and nusinersen for spinal muscular atrophy, which are both antisense oligonucleotides that modify pre-mRNA splicing...
August 2018: Lancet Child & Adolescent Health
https://www.readbyqxmd.com/read/30116818/automated-screening-of-c-elegans-neurodegeneration-mutants-enabled-by-microfluidics-and-image-analysis-algorithms
#3
Ivan de Carlos Cáceres, Daniel A Porto, Ivan Gallotta, Pamela Santonicola, Josue Rodríguez-Cordero, Elia Di Schiavi, Hang Lu
Spinal muscular atrophy (SMA) is a degenerative disorder that selectively deteriorates motor neurons due to a deficiency of survival motor neuron protein (SMN). The illness is the leading genetic cause of death in infants and is difficult to study in complex biological systems such as humans. A simpler model system, such as the nematode C. elegans, can be used to study potential mechanisms underlying this disease; C. elegans expresses the smn-1 gene, a homologue of SMN; powerful genetic tools in C. elegans research can be used to discover novel genes whose effect on SMN remains unknown or uncharacterized...
August 17, 2018: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/30107765/screening-for-spinal-muscular-atrophy
#4
Hugo Sampaio, Bridget Wilcken, Michelle Farrar
No abstract text is available yet for this article.
August 20, 2018: Medical Journal of Australia
https://www.readbyqxmd.com/read/30106667/do-perineuronal-net-elements-contribute-to-pathophysiology-of-spinal-muscular-atrophy-in-vitro-and-transcriptomics-insights
#5
Didem Dayangac-Erden, Bala Gur-Dedeoglu, Fatma Nazli Eskici, Yasemin Oztemur-Islakoglu, Sevim Erdem-Ozdamar
Spinal muscular atrophy (SMA) is one of the most common childhood onset neurodegenerative disorders in global health whereby novel biomarkers and therapeutic targets are sorely needed. SMA is an autosomal recessive genetic disorder resulting in degeneration of α-motor neurons in the brain stem and spinal cord that leads to mortality in infants worldwide. In majority of the patients, SMA is caused by homozygous deletion of the SMN1 gene. The clinical spectrum of the SMA displays, however, large person-to-person variations where the underlying mechanisms are poorly understood...
August 14, 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/30106460/evaluation-of-the-role-of-an-antioxidant-gene-in-nsc-34-motor-neuron-like-cells-as-a-model-of-a-motor-neuron-disease
#6
Aziza Rashed Alrafiah
BACKGROUND: Spinal muscular atrophy is a rare genetic disease, which primarily affects motor neurons and predominantly occurs in children. To date, alternatives for the treatment of the disease have been controversial. Spinal muscular atrophy has a multi-factorial etiology, with mitochondrial oxidative stress considered as the crucial pathogenic mechanism. To determine the mechanisms underlying the loss of motor neurons, NSC-34 motor neuron-like cells are often used as an in vitro model of spinal muscular atrophy...
August 14, 2018: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/30102724/a-new-biomarker-candidate-for-spinal-muscular-atrophy-identification-of-a-peripheral-blood-cell-population-capable-of-monitoring-the-level-of-survival-motor-neuron-protein
#7
Noriko Otsuki, Reiko Arakawa, Kaori Kaneko, Ryoko Aoki, Masayuki Arakawa, Kayoko Saito
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by insufficiency of functional survival motor neuron (SMN) protein. Several clinical trials have been conducted with the aim of upregulating the expression of the SMN protein in SMA patients. In order to evaluate the efficiency of these SMN-targeted approaches, it has become necessary to verify SMN protein levels in the cells of SMA patients. Accordingly, we have developed a method allowing the evaluation of the functional SMN protein with < 1...
2018: PloS One
https://www.readbyqxmd.com/read/30098235/-screening-for-spinal-muscular-atrophy-mutation-carriers-among-4931-pregnant-women-from-liuzhou-region-of-guangxi
#8
Jianqiang Tan, Xu Zhang, Yuanliu Wang, Shiqiang Luo, Fanghua Yang, Bailing Liu, Ren Cai
OBJECTIVE: To screen for carriers of SMN1 gene mutation, which underlies spinal muscular atrophy (SMA), in 4931 pregnant women from Liuzhou region of Guangxi, and to determine the carrier rate. METHODS: Combined denaturing high-performance liquid chromatography (DHPLC) and multiple PCR techniques were used to detect the copy number of SMN1 gene. The carrier frequency was calculated. The spouse of the carrier was also screened, and prenatal diagnosis was provided to the couples who were both positive...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30094386/recruitment-retention-program-for-the-neuronext-sma-biomarker-study-super-babies-for-sma
#9
Amy Bartlett, Stephen J Kolb, Allison Kingsley, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Susan T Iannaccone, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Christopher S Coffey, Jon W Yankey, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, W David Arnold, John T Kissel
Background/Aims: Recruitment and retention of research participants are challenging and critical components of successful clinical trials and natural history studies. Infants with spinal muscular atrophy (SMA) have been a particularly challenging population to study due to their fragile and complex medical issues, poor prognosis and, until 2016, a lack of effective therapies. Recruitment of healthy infants into clinical trials and natural history studies is also challenging and sometimes assumed to not be feasible...
September 2018: Contemporary Clinical Trials Communications
https://www.readbyqxmd.com/read/30093643/gene-therapy-for-neurological-disorders-progress-and-prospects
#10
REVIEW
Benjamin E Deverman, Bernard M Ravina, Krystof S Bankiewicz, Steven M Paul, Dinah W Y Sah
Adeno-associated viral (AAV) vectors are a rapidly emerging gene therapy platform for the treatment of neurological diseases. In preclinical studies, transgenes encoding therapeutic proteins, microRNAs, antibodies or gene-editing machinery have been successfully delivered to the central nervous system with natural or engineered viral capsids via various routes of administration. Importantly, initial clinical studies have demonstrated encouraging safety and efficacy in diseases such as Parkinson disease and spinal muscular atrophy, as well as durability of transgene expression...
August 10, 2018: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/30093179/incidence-of-infantile-spinal-muscular-atrophy-on-shikoku-island-of-japan
#11
Kentaro Okamoto, Mitsumasa Fukuda, Isao Saito, Risako Urate, Satoshi Maniwa, Daisuke Usui, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Takatoshi Hosokawa, Yukihiko Konishi, Reiko Arakawa, Kenji Mori, Eiichi Ishii, Kayoko Saito, Hisahide Nishio
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by homozygous mutations in the SMN1 gene. SMA has long been known to be the most common genetic cause of infant mortality. However, there have been no reports on the epidemiology of infantile SMA (types 1 and 2) based on genetic testing in Japan. In this study, we estimated the incidence of infantile SMA on Shikoku Island, which is a main island of Japan and consists of four prefectures: Ehime, Kagawa, Tokushima and Kochi...
August 6, 2018: Brain & Development
https://www.readbyqxmd.com/read/30092269/loss-of-micos-complex-integrity-and-mitochondrial-damage-but-not-tdp-43-mitochondrial-localisation-are-likely-associated-with-severity-of-chchd10-related-diseases
#12
Emmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (SMAJ). SMAJ is a slowly progressive form of spinal muscular atrophy with a life expectancy within normal range. In order to understand why the p.Ser59Leu mutation, responsible for severe FTD-ALS, and the p.Gly66Val mutation could lead to different levels of severity, we compared their effects in patient cells...
August 6, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/30081499/unraveling-the-pathways-to-neuronal-homeostasis-and-disease-mechanistic-insights-into-the-role-of-rna-binding-proteins-and-associated-factors
#13
REVIEW
Stylianos Ravanidis, Fedon-Giasin Kattan, Epaminondas Doxakis
The timing, dosage and location of gene expression are fundamental determinants of brain architectural complexity. In neurons, this is, primarily, achieved by specific sets of trans-acting RNA-binding proteins (RBPs) and their associated factors that bind to specific cis elements throughout the RNA sequence to regulate splicing, polyadenylation, stability, transport and localized translation at both axons and dendrites. Not surprisingly, misregulation of RBP expression or disruption of its function due to mutations or sequestration into nuclear or cytoplasmic inclusions have been linked to the pathogenesis of several neuropsychiatric and neurodegenerative disorders such as fragile-X syndrome, autism spectrum disorders, spinal muscular atrophy, amyotrophic lateral sclerosis and frontotemporal dementia...
August 3, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/30080825/gene-therapy-rescues-newborns-with-spinal-muscular-atrophy
#14
Cormac Sheridan
No abstract text is available yet for this article.
August 6, 2018: Nature Biotechnology
https://www.readbyqxmd.com/read/30065610/molecular-factors-involved-in-spinal-muscular-atrophy-pathways-as-possible-disease-modifying-candidates
#15
REVIEW
Marianna A Maretina, Galina Y Zheleznyakova, Kristina M Lanko, Anna A Egorova, Vladislav S Baranov, Anton V Kiselev
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the SMN1 gene. Being a monogenic disease, it is characterized by high clinical heterogeneity. Variations in penetrance and severity of symptoms, as well as clinical discrepancies between affected family members can result from modifier genes influence on disease manifestation. SMN2 gene copy number is known to be the main phenotype modifier and there is growing evidence of additional factors contributing to SMA severity. Potential modifiers of spinal muscular atrophy can be found among the wide variety of different factors, such as multiple proteins interacting with SMN or promoting motor neuron survival, epigenetic modifications, transcriptional or splicing factors influencing SMN2 expression...
August 2018: Current Genomics
https://www.readbyqxmd.com/read/30061431/protocol-for-a-phase-ii-monocentre-double-blind-placebo-controlled-cross-over-trial-to-assess-efficacy-of-pyridostigmine-in-patients-with-spinal-muscular-atrophy-types-2-4-space-trial
#16
Marloes Stam, Renske I Wadman, Camiel A Wijngaarde, Bart Bartels, Fay-Lynn Asselman, Louise A M Otto, H Stephan Goedee, Laura E Habets, Janke F de Groot, Marja A G C Schoenmakers, Inge Cuppen, Leonard H van den Berg, W Ludo van der Pol
INTRODUCTION: Hereditary proximal spinal muscular atrophy (SMA) is caused by homozygous loss of function of the survival motor neuron 1 gene. The main characteristic of SMA is degeneration of alpha motor neurons in the anterior horn of the spinal cord, but recent studies in animal models and patients have shown additional anatomical abnormalities and dysfunction of the neuromuscular junction (NMJ). NMJ dysfunction could contribute to symptoms of weakness and fatigability in patients with SMA...
July 30, 2018: BMJ Open
https://www.readbyqxmd.com/read/30054298/inframe-de-novo-mutation-in-bicd2-in-two-patients-with-muscular-atrophy-and-arthrogryposis
#17
Daniel C Koboldt, Rama Kastury, Megan A Waldrop, Benjamin J Kelly, Theresa Mihalic Mosher, Heather McLaughlin, Don Corsmeier, Jonathan L Slaughter, Kevin M Flanigan, Kim L McBride, Lakshmi Mehta, Richard K Wilson, Peter White
We describe two unrelated patients, a 12-year-old female and a 6-year-old male, with congenital contractures and severe congenital muscular atrophy. Exome and genome sequencing of the probands and their unaffected parents revealed that they have the same de novo deletion in BICD2 (c.1636_1638delAAT). The variant, which has never been reported, results in an inframe 3 base pair deletion and is predicted to cause loss of an evolutionarily conserved Asparagine residue at position 546 in the protein. Missense mutations in BICD2 cause autosomal dominant spinal muscular atrophy, lower-extremity predominant 2 (SMALED2), a disease characterized by muscle weakness and arthrogryposis of early onset and slow progression...
July 27, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/30050127/vrk1-partial-knockdown-in-mice-results-in-reduced-brain-weight-and-mild-motor-dysfunction-and-indicates-neuronal-vrk1-target-pathways
#18
Hadar Vinograd-Byk, Paul Renbaum, Ephrat Levy-Lahad
Mutations in Vaccinia-related kinase 1 (VRK1) have emerged as a cause of severe neuronal phenotypes in human, including brain developmental defects and degeneration of spinal motor neurons, leading to Spinal Muscular Atrophy (SMA) or early onset Amyotrophic Lateral Sclerosis (ALS). Vrk1 gene-trap partial Knockout (KO) mice (Vrk1GT3/GT3 ), which express decreased levels of Vrk1, are sterile due to impaired gamete production. Here, we examined whether this mouse model also presents neuronal phenotypes. We found a 20-50% reduction in Vrk1 expression in neuronal tissues of the Vrk1GT3/GT3 mice, leading to mild neuronal phenotypes including significant but small reduction in brain mass and motor (rotarod) impairment...
July 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30050118/denervation-activated-stat3-il-6-signalling-in-fibro-adipogenic-progenitors-promotes-myofibres-atrophy-and-fibrosis
#19
Luca Madaro, Magda Passafaro, David Sala, Usue Etxaniz, Francesca Lugarini, Daisy Proietti, Maria Vittoria Alfonsi, Chiara Nicoletti, Sole Gatto, Marco De Bardi, Ricardo Rojas-García, Lorenzo Giordani, Sara Marinelli, Vittoria Pagliarini, Claudio Sette, Alessandra Sacco, Pier Lorenzo Puri
Fibro-adipogenic progenitors (FAPs) are typically activated in response to muscle injury, and establish functional interactions with inflammatory and muscle stem cells (MuSCs) to promote muscle repair. We found that denervation causes progressive accumulation of FAPs, without concomitant infiltration of macrophages and MuSC-mediated regeneration. Denervation-activated FAPs exhibited persistent STAT3 activation and secreted elevated levels of IL-6, which promoted muscle atrophy and fibrosis. FAPs with aberrant activation of STAT3-IL-6 signalling were also found in mouse models of spinal cord injury, spinal muscular atrophy, amyotrophic lateral sclerosis (ALS) and in muscles of ALS patients...
August 2018: Nature Cell Biology
https://www.readbyqxmd.com/read/30048507/prospective-and-longitudinal-natural-history-study-of-patients-with-type-2-and-3-spinal-muscular-atrophy-baseline-data-nathis-sma-study
#20
Aurélie Chabanon, Andreea Mihaela Seferian, Aurore Daron, Yann Péréon, Claude Cances, Carole Vuillerot, Liesbeth De Waele, Jean-Marie Cuisset, Vincent Laugel, Ulrike Schara, Teresa Gidaro, Stéphanie Gilabert, Jean-Yves Hogrel, Pierre-Yves Baudin, Pierre Carlier, Emmanuel Fournier, Linda Pax Lowes, Nicole Hellbach, Timothy Seabrook, Elie Toledano, Mélanie Annoussamy, Laurent Servais
Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up...
2018: PloS One
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