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https://www.readbyqxmd.com/read/29158530/mrnas-containing-nmd-competent-premature-termination-codons-are-stabilized-and-translated-under-upf1-depletion
#1
Won Kyu Kim, SeongJu Yun, Yujin Kwon, Kwon Tae You, Nara Shin, Jiyoon Kim, Hoguen Kim
mRNAs containing premature termination codons (PTCs) are rapidly degraded through nonsense-mediated mRNA decay (NMD). However, some PTC-containing mRNAs evade NMD, and might generate mutant proteins responsible for various diseases, including cancers. Using PTC-containing human genomic β-globin constructs, we show that a fraction (~30%) of PTC-containing mRNAs expressed from NMD-competent PTC-containing constructs were as stable as their PTC-free counterparts in a steady state. These PTC-containing mRNAs were monosome-enriched and rarely contributed to expression of mutant proteins...
November 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29157220/combined-effects-of-leaks-respiratory-system-properties-and-upper-airway-patency-on-the-performance-of-home-ventilators-a-bench-study
#2
Kaixian Zhu, Claudio Rabec, Jésus Gonzalez-Bermejo, Sébastien Hardy, Sami Aouf, Pierre Escourrou, Gabriel Roisman
BACKGROUND: Combined effects of leaks, mechanical property of respiratory system and upper airway (UA) patency on patient-ventilator synchrony (PVA) and the level of clinically "tolerable" leaks are not well established in home ventilators. METHODS: We comparatively assessed on a bench model, the highest leak level tolerated without inducing significant asynchrony ("critical leak") in three home ventilators (Astral 150, Trilogy 100 and Vivo 60; noted as A150, T100 and V60 respectively) subjected to three simulated diseased respiratory conditions: chronic obstructive pulmonary disease (COPD), obesity hypoventilation (OHS) and neuromuscular disorders (NMD), with both open and closed UA...
November 21, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29156911/prognostic-indicators-of-neuromuscular-disorders-for-palliative-care-referral
#3
Richard Shek-Kwan Chang, Yuen Kwun Wong
BACKGROUND: Most of the neuromuscular disorders (NMDs) have poor prognosis and lead to various symptoms amendable to palliative care. However, the suitable time of referral is uncertain. METHODS: A retrospective study was conducted to describe the trajectories of NMDs. Early death within one year after NMD diagnosis was set as the outcome. Total of 86 adult NMD patients were recruited in a university hospital. Demographic variable including gender, age at diagnosis and early-onset symptoms including dyspnea, dysphagia, loss of mobility, constipation, mood and sleep disorders, and pain were correlated with the outcome...
September 29, 2017: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/29131862/optimized-approach-for-the-identification-of-highly-efficient-correctors-of-nonsense-mutations-in-human-diseases
#4
Hana Benhabiles, Sara Gonzalez-Hilarion, Séverine Amand, Christine Bailly, Anne Prévotat, Philippe Reix, Dominique Hubert, Eric Adriaenssens, Sylvie Rebuffat, David Tulasne, Fabrice Lejeune
About 10% of patients with a genetic disease carry a nonsense mutation causing their pathology. A strategy for correcting nonsense mutations is premature termination codon (PTC) readthrough, i.e. incorporation of an amino acid at the PTC position during translation. PTC-readthrough-activating molecules appear as promising therapeutic tools for these patients. Unfortunately, the molecules shown to induce PTC readthrough show low efficacy, probably because the mRNAs carrying a nonsense mutation are scarce, as they are also substrates of the quality control mechanism called nonsense-mediated mRNA decay (NMD)...
2017: PloS One
https://www.readbyqxmd.com/read/29128743/the-suppression-of-premature-termination-codons-and-the-repair-of-splicing-mutations-in-cftr
#5
REVIEW
Yifat S Oren, Iwona M Pranke, Batsheva Kerem, Isabelle Sermet-Gaudelus
Premature termination codons (PTC) originate from nucleotide substitution introducing an in-frame PTC. They induce truncated, usually non-functional, proteins, degradation of the PTC containing transcripts by the nonsense-mediated decay (NMD) pathway and abnormal exon skipping. Readthrough compounds facilitate near cognate amino-acyl-tRNA incorporation, leading potentially to restoration of a functional full-length protein. Splicing mutations can lead to aberrantly spliced transcripts by creating a cryptic splice site or destroying a normal site...
November 10, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29125504/clinical-outcomes-in-duchenne-muscular-dystrophy-a-study-of-5345-patients-from-the-treat-nmd-dmd-global-database
#6
Zaïda Koeks, Catherine L Bladen, David Salgado, Erik van Zwet, Oksana Pogoryelova, Grace McMacken, Soledad Monges, Maria Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Matthew I Bellgard, Anna J Roy, Teodora Chamova, Velina Guergueltcheva, Sophelia Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C Walter, Olivia Schreiber-Katz, Veronika Karcagi, Marta Garami, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, Alessandra Ferlini, En Kimura, Janneke C van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Anna Kostera-Pruszczyk, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milic Rasic, Dina Vojinovic, Manuel Posada, Clemens Bloetzer, Andrea Klein, Jordi Díaz-Manera, Eduard Gallardo, A Ayşe Karaduman, Tunca Oznur, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy V Shatillo, Ann S Martin, Holly L Peay, Jan Kirschner, Kevin M Flanigan, Volker Straub, Kate Bushby, Christophe Béroud, Jan J Verschuuren, Hanns Lochmüller
BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. OBJECTIVE: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients...
November 10, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29122854/the-substrates-of-nonsense-mediated-mrna-decay-in-caenorhabditis-elegans
#7
Virginia S Muir, Audrey P Gasch, Philip Anderson
Nonsense-mediated mRNA decay (NMD) is a conserved pathway that strongly influences eukaryotic gene expression.  Inactivating or inhibiting NMD affects the abundance of a substantial fraction of the transcriptome in numerous species.  Transcripts whose abundance is altered in NMD-deficient cells may represent either direct substrates of NMD or indirect effects of inhibiting NMD.  We present a genome-wide investigation of the direct substrates of NMD in Caenorhabditis elegans  Our goals were (i) to identify mRNA substrates of NMD and (ii) to distinguish those mRNAs from others whose abundance is indirectly influenced by the absence of NMD...
November 9, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29121514/nonsense-mediated-mrna-decay-and-cancer
#8
REVIEW
Maximilian W Popp, Lynne E Maquat
Nonsense-mediated mRNA decay (NMD) is a conserved mRNA surveillance pathway that cells use to ensure the quality of transcripts and to fine-tune transcript abundance. The role of NMD in cancer development is complex. In some cases, tumors have exploited NMD to downregulate gene expression by apparently selecting for mutations causing destruction of key tumor-suppressor mRNAs. In other cases, tumors adjust NMD activity to adapt to their microenvironment. Understanding how particular tumors exploit NMD for their benefit may augment the development of new therapeutic interventions...
November 7, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29115704/recessive-distal-motor-neuropathy-with-pyramidal-signs-in-an-omani-kindred-underlying-novel-mutation-in-the-sigmar1-gene
#9
Ramachandiran Nandhagopal, Douja Meftah, Sami Al-Kalbani, Patrick Scott
BACKGROUND: Distal hereditary motor neuropathy (dHMN) due to sigma nonopiod intracellular receptor 1 gene (SIGMAR1) mutation (OMIM 601978.0003) is a rare neuromuscular disorder characterized by prominent amyotrophic distal limb weakness and co-existing pyramidal signs initially described in a Chinese family in the recent year. We report an extended consanguineous Omani family segregating dHMN with pyramidal signs in an autosomal recessive pattern and describe a novel mutation in the SIGMAR1 gene underlying this motor phenotype...
November 8, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29107646/spastic-paraplegia-type-31-a-novel-reep1-splice-site-donor-variant-and-expansion-of-the-phenotype-variability
#10
Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio, Ryuji Kaji
Mutations in REEP1 have been identified in three types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy. Previous studies demonstrated different molecular pathogenesis in SPG31, including loss-of-function, gain-of-function and haploinsufficiency. A four-generation family from Japan, including 12 members, was investigated clinically and genetically...
October 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29080838/the-smn1-common-variant-c-22-dupa-in-chinese-patients-causes-spinal-muscular-atrophy-by-nonsense-mediated-mrna-decay-in-humans
#11
Bai JinLi, Qu YuJin, Cao YanYan, Yang Lan, Ge Lin, Jin YuWei, Wang Hong, Song Fang
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is mostly caused by homozygous deletion of the SMN1 gene. Approximately 5%-10% of SMA patients are believed to have SMN1 variants. c.22 dupA (p.Ser8lysfs*23) has been identified as the most frequent variant in the Chinese SMA population and to be associated with a severe phenotype. However, the exact molecular mechanism of the variant on the pathogenesis of SMA is unclear. We observed that SMN1 mRNA and the SMN protein in the peripheral blood cells of a patient with c...
October 25, 2017: Gene
https://www.readbyqxmd.com/read/29078780/the-effect-of-an-apple-polyphenol-extract-rich-in-epicatechin-and-flavan-3-ol-oligomers-on-brachial-artery-flow-mediated-vasodilatory-function-in-volunteers-with-elevated-blood-pressure
#12
Maria Saarenhovi, Pia Salo, Mika Scheinin, Jussi Lehto, Zsófia Lovró, Kirsti Tiihonen, Markus J Lehtinen, Jouni Junnila, Oliver Hasselwander, Anneli Tarpila, Olli T Raitakari
BACKGROUND: The primary aim of this study was to test the hypothesis that an orally ingested apple polyphenol extract rich in epicatechin and flavan-3-ol oligomers improves endothelium-dependent brachial artery flow-mediated vasodilatation (FMD) in volunteers with borderline hypertension. The secondary aim of the study was to test whether the investigational product would improve endothelium-independent nitrate-mediated vasodilatation (NMD). METHODS: This was a single centre, repeated-dose, double-blind, placebo-controlled, crossover study in 60 otherwise healthy subjects (26 men, 34 women; aged 40-65 years) with borderline hypertension (blood pressure 130-139/85-89 mmHg) or unmedicated mild hypertension (blood pressure 140-165/90-95 mmHg)...
October 27, 2017: Nutrition Journal
https://www.readbyqxmd.com/read/29073135/the-gyf-domain-protein-psig1-dampens-the-induction-of-cell-death-during-plant-pathogen-interactions
#13
Hidenori Matsui, Yuko Nomura, Mayumi Egusa, Takahiro Hamada, Gang-Su Hyon, Hironori Kaminaka, Yuichiro Watanabe, Takashi Ueda, Marco Trujillo, Ken Shirasu, Hirofumi Nakagami
The induction of rapid cell death is an effective strategy for plants to restrict biotrophic and hemi-biotrophic pathogens at the infection site. However, activation of cell death comes at a high cost, as dead cells will no longer be available for defense responses nor general metabolic processes. In addition, necrotrophic pathogens that thrive on dead tissue, take advantage of cell death-triggering mechanisms. Mechanisms by which plants solve this conundrum remain described. Here, we identify PLANT SMY2-TYPE ILE-GYF DOMAIN-CONTAINING PROTEIN 1 (PSIG1) and show that PSIG1 helps to restrict cell death induction during pathogen infection...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29058182/nonsense-mediated-mrna-decay-of-herg-mutations-in-long-qt-syndrome
#14
Qiuming Gong, Zhengfeng Zhou
Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-à-go-go related gene (hERG), which encodes the Kv11.1 potassium channel in the heart. Over 30% of identified LQT2 mutations are nonsense or frameshift mutations that introduce premature termination codons (PTCs). Contrary to intuition, the predominant consequence of LQT2 nonsense and frameshift mutations is not the production of truncated proteins, but rather the degradation of mutant mRNA by nonsense-mediated mRNA decay (NMD), an RNA surveillance mechanism that selectively eliminates the mRNA transcripts that contain PTCs...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29046474/human-alternative-klotho-mrna-is-a-nonsense-mediated-mrna-decay-target-inefficiently-spliced-in-renal-disease
#15
Rik Mencke, Geert Harms, Jill Moser, Matijs van Meurs, Arjan Diepstra, Henri G Leuvenink, Jan-Luuk Hillebrands
Klotho is a renal protein involved in phosphate homeostasis, which is downregulated in renal disease. It has long been considered an antiaging factor. Two Klotho gene transcripts are thought to encode membrane-bound and secreted Klotho. Indeed, soluble Klotho is detectable in bodily fluids, but the relative contributions of Klotho secretion and of membrane-bound Klotho shedding are unknown. Recent advances in RNA surveillance reveal that premature termination codons, as present in alternative Klotho mRNA (for secreted Klotho), prime mRNAs for degradation by nonsense-mediated mRNA decay (NMD)...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29045178/harmonizing-breast-cancer-screening-recommendations-metrics-and-accountability
#16
Cindy S Lee, Linda Moy, Sarah M Friedewald, Edward A Sickles, Debra L Monticciolo
OBJECTIVE: The purposes of this article are to summarize breast cancer screening recommendations and discuss their differences and similarities and to explain the differences between two national databases to aid in interpretation of their benchmarks. CONCLUSION: The American College of Radiology, American Cancer Society, and U.S. Preventive Services Task Force all agree that annual mammography beginning at age 40 saves the most lives, and all acknowledge a woman's right to choose when to begin and stop screening...
October 18, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29034140/regulation-of-gene-expression-by-translation-factor-eif5a-hypusine-modified-eif5a-enhances-nonsense-mediated-mrna-decay-in-human-cells
#17
Mainul Hoque, Ji Yeon Park, Yun-Juan Chang, Augusto D Luchessi, Tavane D Cambiaghi, Raghavendra Shamanna, Hartmut M Hanauske-Abel, Bart Holland, Tsafi Pe'ery, Bin Tian, Michael B Mathews
Nonsense-mediated mRNA decay (NMD) couples protein synthesis to mRNA turnover. It eliminates defective transcripts and controls the abundance of certain normal mRNAs. Our study establishes a connection between NMD and the translation factor eIF5A (eukaryotic initiation factor 5A) in human cells. eIF5A modulates the synthesis of groups of proteins (the eIF5A regulon), and undergoes a distinctive two-step post-translational modification (hypusination) catalyzed by deoxyhypusine synthase and deoxyhypusine hydroxylase...
2017: Translation
https://www.readbyqxmd.com/read/29033278/different-profiles-of-upper-limb-function-in-four-types-of-neuromuscular-disorders
#18
Arjen Bergsma, Mariska M H P Janssen, Alexander C H Geurts, Edith H C Cup, Imelda J M de Groot
The aim of this research was to study impairments, activity limitations and participation restrictions due to upper limb involvement in people with four different types of neuromuscular disorders (NMD) - FacioScapuloHumeral Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) - and to investigate whether common or different profiles could be identified. Total of 267 respondents with NMD from the Netherlands answered a set of questionnaires covering upper limb impairments (pain and stiffness), activity limitations and participation restrictions...
September 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29028499/fasciculations-in-nerve-and-muscle-disorders-a-prospective-study-of-muscle-ultrasound-compared-to-electromyography
#19
M T Johansson, H R Ellegaard, H Tankisi, A Fuglsang-Frederiksen, E Qerama
OBJECTIVES: We examined the clinical utility of muscle ultrasound (MUS) in detecting fasciculations in patients with nerve and muscle disorders (NMD) and investigated the impact on diagnostic sensitivity when combining electromyography (EMG) and MUS. METHODS: We included 58 consecutive patients suspected to have NMD and 38 healthy subjects (HS). Patients and HS underwent MUS in 14 skeletal and two bulbar muscles and the video recordings of the MUS were anonymised...
September 22, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29020934/transcriptome-analyses-reveal-sr45-to-be-a-neutral-splicing-regulator-and-a-suppressor-of-innate-immunity-in-arabidopsis-thaliana
#20
Xiao-Ning Zhang, Yifei Shi, Jordan J Powers, Nikhil B Gowda, Chong Zhang, Heba M M Ibrahim, Hannah B Ball, Samuel L Chen, Hua Lu, Stephen M Mount
BACKGROUND: Regulation of pre-mRNA splicing diversifies protein products and affects many biological processes. Arabidopsis thaliana Serine/Arginine-rich 45 (SR45), regulates pre-mRNA splicing by interacting with other regulatory proteins and spliceosomal subunits. Although SR45 has orthologs in diverse eukaryotes, including human RNPS1, the sr45-1 null mutant is viable. Narrow flower petals and reduced seed formation suggest that SR45 regulates genes involved in diverse processes, including reproduction...
October 11, 2017: BMC Genomics
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