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muscular atrophy

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https://www.readbyqxmd.com/read/28637335/astrocyte-produced-mir-146a-as-a-mediator-of-motor-neuron-loss-in-spinal-muscular-atrophy
#1
Samantha L Sison, Teresa N Patitucci, Emily R Seminary, Eric Villalon, Christian L Lorson, Allison D Ebert
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is caused by loss of the survival motor neuron-1 (SMN1) gene, which leads to motor neuron loss, muscle atrophy, respiratory distress, and death. Motor neurons exhibit the most profound loss, but the mechanisms underlying disease pathogenesis are not fully understood. Recent evidence suggests that motor neuron extrinsic influences, such as those arising from astrocytes, contribute to motor neuron malfunction and loss. Here we investigated both loss-of-function and toxic gain-of-function astrocyte mechanisms that could play a role in SMA pathology...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28637197/pontocerebellar-hypoplasia-with-spinal-muscular-atrophy-pch1-identification-of-slc25a46-mutations-in-the-original-dutch-pch1-family
#2
Tessa van Dijk, Sabine Rudnik-Schöneborn, Jan Senderek, Ghazaleh Hajmousa, Hailiang Mei, Marina Dusl, Eleonora Aronica, Peter Barth, Frank Baas
No abstract text is available yet for this article.
June 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#3
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635376/advances-in-understanding-the-role-of-disease-associated-proteins-in-spinal-muscular-atrophy
#4
Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Brunhilde Wirth
Spinal muscular atrophy (SMA) is a neurodegenerative disorder characterized by alpha motor neuron loss in the spinal cord due to reduced survival of motor neuron (SMN) protein level. While the genetic basis of SMA is well described, the specific molecular pathway underlying SMA is still not fully understood. Areas covered: This review discusses the recent advancements in understanding the molecular pathways in SMA using different omics approaches and genetic modifiers identified in both vertebrate and invertebrate systems...
June 21, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28634652/a-multi-source-approach-to-determine-sma-incidence-and-research-ready-population
#5
Ingrid E C Verhaart, Agata Robertson, Rebecca Leary, Grace McMacken, Kirsten König, Janbernd Kirschner, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight of the disease epidemiology. To investigate the incidence of genetically confirmed SMA, and the number of patients who are able and approachable to participate in new clinical trials and observational research, we used both genetic laboratories, the TREAT-NMD Global SMA Patient Registry and the Care and Trial Sites Registry (CTSR)...
June 20, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28634560/atypical-lipomatous-tumor-well-differentiated-liposarcoma-developed-in-a-patient-with-progressive-muscular-dystrophy-a-case-report-and-review-of-the-literature
#6
Ryo Miyagi, Toshihiko Nishisho, Shinjiro Takata, Yoshimitsu Shimatani, Shunichi Toki, Koichi Sairyo
BACKGROUND: Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLS) is an intermediate or locally aggressive form of adipocytic soft tissue sarcoma. Muscular dystrophy (MD) is characterized by progressive muscle atrophy and its replacement by adipose and fibrous tissue. Recently, some authors have reported that MD genes are related to neoplastic formation, but there have been no detailed clinical reports of ALT associated with MD. CASE PRESENTATION: A 73-year-old woman with a diagnosis of limb-girdle MD visited our department for recurrence of a huge tumor in her left thigh...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28634552/inherited-paediatric-motor-neuron-disorders-beyond-spinal-muscular-atrophy
#7
REVIEW
Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar
Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28630759/the-adult-cavus-foot
#8
Carlos Maynou, Christophe Szymanski, Alexis Thiounn
Cavovarus deformity can be classified by the severity of malalignment ranging from a subtle and flexible to a severe and fixed cavovarus deformity of the foot.In the mild cavovarus foot, careful clinical assessment is required to identify the deformity.Weight-bearing radiographs are necessary to indicate the apex of the deformity and quantify the correction required.Surgery is performed when conservative measures fail and various surgical procedures have been described, including a combination of soft-tissue releases, tendon transfers and osteotomies, all with the aim of achieving a plantigrade and balanced foot...
May 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28630007/rna-localization-making-its-way-to-the-center-stage
#9
REVIEW
Ashley Chin, Eric Lécuyer
Cells are highly organized entities that rely on intricate addressing mechanisms to sort their constituent molecules to precise subcellular locations. These processes are crucial for cells to maintain their proper organization and carry out specialized functions in the body, while genetic perturbations that clog up these addressing systems can contribute to disease aetiology. The trafficking of RNA molecules represents an important layer in the control of cellular organization, a process that is both highly prevalent and for which features of the regulatory machineries have been deeply conserved evolutionarily...
June 16, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28624227/efficient-smn-rescue-following-subcutaneous-tricyclo-dna-antisense-oligonucleotide-treatment
#10
Valérie Robin, Graziella Griffith, John-Paul L Carter, Christian J Leumann, Luis Garcia, Aurélie Goyenvalle
Spinal muscular atrophy (SMA) is a recessive disease caused by mutations in the SMN1 gene, which encodes the protein survival motor neuron (SMN), whose absence dramatically affects the survival of motor neurons. In humans, the severity of the disease is lessened by the presence of a gene copy, SMN2. SMN2 differs from SMN1 by a C-to-T transition in exon 7, which modifies pre-mRNA splicing and prevents successful SMN synthesis. Splice-switching approaches using antisense oligonucleotides (AONs) have already been shown to correct this SMN2 gene transition, providing a therapeutic avenue for SMA...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28623256/lna-dna-mixmer-based-antisense-oligonucleotides-correct-alternative-splicing-of-the%C3%A2-smn2-gene-and-restore-smn-protein-expression-in-type-1-sma-fibroblasts
#11
Aleksander Touznik, Rika Maruyama, Kana Hosoki, Yusuke Echigoya, Toshifumi Yokota
Spinal muscular atrophy (SMA) is an autosomal recessive disorder affecting motor neurons, and is currently the most frequent genetic cause of infant mortality. SMA is caused by a loss-of-function mutation in the survival motor neuron 1 (SMN1) gene. SMN2 is an SMN1 paralogue, but cannot compensate for the loss of SMN1 since exon 7 in SMN2 mRNA is excluded (spliced out) due to a single C-to-T nucleotide transition in the exon 7. One of the most promising strategies to treat SMA is antisense oligonucleotide (AON)-mediated therapy...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28622884/the-effect-of-caloric-restriction-on-the-forelimb-skeletal-muscle-fibers-of-the-hypertrophic-myostatin-null-mice
#12
Mohamed I Elashry, Antonios Matsakas, Sabine Wenisch, Stefan Arnhold, Ketan Patel
Skeletal muscle mass loss has a broad impact on body performance and physical activity. Muscle wasting occurs due to genetic mutation as in muscular dystrophy, age-related muscle loss (sarcopenia) as well as in chronic wasting disorders as in cancer cachexia. Food restriction reduces muscle mass underpinned by increased muscle protein break down. However the influence of dietary restriction on the morphometry and phenotype of forelimb muscles in a genetically modified myostatin null mice are not fully characterized...
June 13, 2017: Acta Histochemica
https://www.readbyqxmd.com/read/28616022/therapeutic-opportunities-and-challenges-of-induced-pluripotent-stem-cells-derived-motor-neurons-for-treatment-of-amyotrophic-lateral-sclerosis-and-motor-neuron-disease
#13
REVIEW
Manoj Kumar Jaiswal
Amyotrophic lateral sclerosis (ALS) and motor neuron diseases (MNDs) are progressive neurodegenerative diseases that affect nerve cells in the brain affecting upper and lower motor neurons (UMNs/LMNs), brain stem and spinal cord. The clinical phenotype is characterized by loss of motor neurons (MNs), muscular weakness and atrophy eventually leading to paralysis and death due to respiratory failure within 3-5 years after disease onset. No effective treatment or cure is currently available that halts or reverses ALS and MND except FDA approved drug riluzole that only modestly slows the progression of ALS in some patients...
May 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28614273/fat-grafting-for-esthetic-correction-of-the-muscle-atrophy-secondary-to-ulnar-nerve-lesion
#14
Samuel Ribak, André L Vasconcelos, Ricardo K Oliveira
Patients with hand muscular atrophy due to damage of the ulnar nerve could be stigmatized for their appearance. Unsatisfactory results in the attempt to correct the atrophy are reported in the literature. Fat grafting is an autologous and easily obtainable graft, antigenic response is very unlikely, it does not require any special material, and the procedure has a low cost. The technique of autologous fat grafting by using fat block, to remodel the first interdigital space, is useful and safe in correcting muscle atrophy of the first interdigital space caused by the injury of the ulnar nerve...
June 13, 2017: Techniques in Hand & Upper Extremity Surgery
https://www.readbyqxmd.com/read/28611571/exosomes-and-homeostatic-synaptic-plasticity-are-linked-to-each-other-and-to-huntington-s-parkinson-s-and-other-neurodegenerative-diseases-by-database-enabled-analyses-of-comprehensively-curated-datasets
#15
James K T Wang, Peter Langfelder, Steve Horvath, Michael J Palazzolo
Huntington's disease (HD) is a progressive and autosomal dominant neurodegeneration caused by CAG expansion in the huntingtin gene (HTT), but the pathophysiological mechanism of mutant HTT (mHTT) remains unclear. To study HD using systems biological methodologies on all published data, we undertook the first comprehensive curation of two key PubMed HD datasets: perturbation genes that impact mHTT-driven endpoints and therefore are putatively linked causally to pathogenic mechanisms, and the protein interactome of HTT that reflects its biology...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28608457/potential-therapeutic-interventions-for-chronic-kidney-disease-associated-sarcopenia-via-indoxyl-sulfate-induced-mitochondrial-dysfunction
#16
Yuki Enoki, Hiroshi Watanabe, Riho Arake, Rui Fujimura, Kana Ishiodori, Tadashi Imafuku, Kento Nishida, Ryusei Sugimoto, Saori Nagao, Shigeyuki Miyamura, Yu Ishima, Motoko Tanaka, Kazutaka Matsushita, Hirotaka Komaba, Masafumi Fukagawa, Masaki Otagiri, Toru Maruyama
BACKGROUND: Chronic kidney disease (CKD) patients experience skeletal muscle wasting and decreased exercise endurance. Our previous study demonstrated that indoxyl sulfate (IS), a uremic toxin, accelerates skeletal muscle atrophy. The purpose of this study was to examine the issue of whether IS causes mitochondria dysfunction and IS-targeted intervention using AST-120, which inhibits IS accumulation, or mitochondria-targeted intervention using L-carnitine or teneligliptin, a dipeptidyl peptidase-4 inhibitor which retains mitochondria function and alleviates skeletal muscle atrophy and muscle endurance in chronic kidney disease mice...
June 12, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28606713/rhabdomyolysis-and-coeliac-disease-a-causal-or-casual-association-a-case-report-and-review-of-literature
#17
Claudia Mandato, Alessandro Rossi, Mariano Caldore, Marta Lamba, Michele Rocco, Renata Auricchio, Pietro Vajro, Paolo Siani
BACKGROUND: Rhabdomyolysis is a rare, potentially life-threatening condition, caused by multiple disorders. The association with Coeliac Disease (CD) has been rarely reported and in these cases muscular damage was imputed to hypokalemia. Herein we describe a new case of severe rhabdomyolysis in a child subsequently diagnosed as affected by CD, and review previous reports. CASE PRESENTATION: A 3-year-old boy was referred for diarrhea, brown urine, muscular pain/weakness, and no history of muscular trauma...
June 9, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28606402/clinical-histological-and-radiological-responses-to-methylprednisolone-in-hiv-associated-rod-myopathy
#18
André M S Silva, Rodrigo H Mendonça, Cristiane A M Moreno, Eduardo P Estephan, Paulo V P Helito, Mary S Carvalho, Edmar Zanoteli
Skeletal muscle involvement as a neurologic manifestation in individuals with HIV is rare, especially as rod myopathy. We describe a 41-year-old male with HIV infection who presented progressive proximal muscle weakness and limb-girdle atrophy. A muscle magnetic resonance image showed bilateral fatty infiltration and post-contrast enhancement in the arm and thigh muscles. The muscle biopsy revealed intracytoplasmic aggregates with appearance of nemaline rod bodies with Gomori trichrome staining and electron microscopy in most fibers...
May 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28606400/autosomal-dominant-distal-myopathy-due-to-a-novel-acta1-mutation
#19
Teerin Liewluck, Eric J Sorenson, Magdalena A Walkiewicz, Kandelaria M Rumilla, Margherita Milone
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings...
May 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28604635/splice-switching-therapy-for-spinal-muscular-atrophy
#20
REVIEW
Katharina E Meijboom, Matthew J A Wood, Graham McClorey
Spinal muscular atrophy (SMA) is a genetic disorder with severity ranging from premature death in infants to restricted motor function in adult life. Despite the genetic cause of this disease being known for over twenty years, only recently has a therapy been approved to treat the most severe form of this disease. Here we discuss the genetic basis of SMA and the subsequent studies that led to the utilization of splice switching oligonucleotides to enhance production of SMN protein, which is absent in patients, through a mechanism of exon inclusion into the mature mRNA...
June 12, 2017: Genes
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