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Watanabe, Ii-Sei
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[PMID]:28314941
[Au] Autor:Martins DO; Dos Santos FM; Ciena AP; Watanabe IS; de Britto LRG; Lemos JBD; Chacur M
[Ad] Endereço:Department of Anatomy, Institute of Biomedical Sciences, University of São Paulo, Av. Prof. Lineu Prestes, 2415, São Paulo, SP, 05508-000, Brazil. martinsd@usp.br.
[Ti] Título:Neuropeptide expression and morphometric differences in crushed alveolar inferior nerve of rats: Effects of photobiomodulation.
[So] Source:Lasers Med Sci;32(4):833-840, 2017 May.
[Is] ISSN:1435-604X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Inferior alveolar nerve (IAN) injuries may occur during various dental routine procedures, especially in the removal of impacted lower third molars, and nerve recovery in these cases is a great challenge in dentistry. Here, the IAN crush injury model was used to assess the efficacy of photobiomodulation (PBM) in the recovery of the IAN in rats following crushing injury (a partial lesion). Rats were divided into four experimental groups: without any procedure, IAN crush injury, and IAN crush injury with PBM and sham group with PBM. Treatment was started 2 days after surgery, above the site of injury, and was performed every other day, totaling 10 sessions. Rats were irradiated with GaAs Laser (Gallium Arsenide, Laserpulse, Ibramed Brazil) emitting a wavelength of 904 nm, an output power of 70 mWpk, beam spot size at target ∼0.1 cm , a frequency of 9500 Hz, a pulse time 60 ns, and an energy density of 6 J/cm . Nerve recovery was investigated by measuring the morphometric data of the IAN using TEM and by the expression of laminin, neurofilaments (NFs), and myelin protein zero (MPZ) using Western blot analysis. We found that IAN-injured rats which received PBM had a significant improvement of IAN morphometry when compared to IAN-injured rats without PBM. In parallel, all MPZ, laminin, and NFs exhibited a decrease after PBM. The results of this study indicate that the correlation between the peripheral nerve ultrastructure and the associated protein expression shows the beneficial effects of PBM.
[Mh] Termos MeSH primário: Terapia com Luz de Baixa Intensidade
Nervo Mandibular/metabolismo
Nervo Mandibular/patologia
Compressão Nervosa
Neuropeptídeos/metabolismo
[Mh] Termos MeSH secundário: Animais
Densitometria
Filamentos Intermediários/metabolismo
Laminina/metabolismo
Masculino
Nervo Mandibular/ultraestrutura
Proteína P0 da Mielina/metabolismo
Ratos Wistar
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Laminin); 0 (Myelin P0 Protein); 0 (Neuropeptides)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170319
[St] Status:MEDLINE
[do] DOI:10.1007/s10103-017-2181-2


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[PMID]:28168703
[Au] Autor:Geary MB; Li H; Zingman A; Ketz J; Zuscik M; De Mesy Bentley KL; Noble M; Elfar JC
[Ad] Endereço:Center for Musculoskeletal Research, University of Rochester Medical Center, 601 Elmwood Avenue, Box 665, Rochester, New York, 14642, USA.
[Ti] Título:Erythropoietin accelerates functional recovery after moderate sciatic nerve crush injury.
[So] Source:Muscle Nerve;56(1):143-151, 2017 Jul.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Erythropoietin (EPO) has been identified as a neuroregenerative agent. We hypothesize that it may accelerate recovery after crush injury and may vary with crush severity. METHODS: Mice were randomized to mild, moderate, or severe crush of the sciatic nerve and were treated with EPO or vehicle control after injury. The sciatic function index (SFI) was monitored over the first week. Microstructural changes were analyzed by immunofluorescence for neurofilament (NF) and myelin (P ), and electron microscopy was used to assess ultrastructural changes. RESULTS: In moderate crush injuries, EPO significantly improved SFI at 7 days post-injury, an effect not observed with other severity levels. Increases in the ratio of P to NF were observed after EPO treatment in moderate crush injuries. Electron microscopy demonstrated endothelial cell hypertrophy in the EPO group. CONCLUSIONS: EPO accelerates recovery in moderately crushed nerves, which may be through effects on myelination and vascularization. Injury severity may influence the efficacy of EPO. Muscle Nerve 56: 143-151, 2017.
[Mh] Termos MeSH primário: Eritropoetina/uso terapêutico
Recuperação de Função Fisiológica/efeitos dos fármacos
Neuropatia Ciática/tratamento farmacológico
Neuropatia Ciática/fisiopatologia
[Mh] Termos MeSH secundário: Análise de Variância
Animais
Modelos Animais de Doenças
Feminino
Regulação da Expressão Gênica/efeitos dos fármacos
Filamentos Intermediários/metabolismo
Filamentos Intermediários/patologia
Camundongos
Camundongos Endogâmicos C57BL
Microscopia Eletrônica
Proteína P0 da Mielina/metabolismo
Nervo Isquiático/efeitos dos fármacos
Nervo Isquiático/patologia
Nervo Isquiático/ultraestrutura
Índice de Gravidade de Doença
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Myelin P0 Protein); 11096-26-7 (Erythropoietin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170818
[Lr] Data última revisão:
170818
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170208
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25459


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[PMID]:27842213
[Au] Autor:Brunn A; Mihelcic M; Carstov M; Feind L; Wieser EC; Schmidt J; Utermöhlen O; Deckert M
[Ad] Endereço:Department of Neuropathology, University Hospital of Cologne, Cologne, Germany. Electronic address: anna.brunn@uk-koeln.de.
[Ti] Título:Toll-Like Receptor 2, Toll-Like Receptor 4, Myeloid Differentiation Response Gene 88, and Toll-IL-1 Receptor Domain-Containing Adaptor-Inducing Interferon-γ (TRIF) Selectively Regulate Susceptibility of P0 -Induced Murine Experimental Autoimmune Neuritis.
[So] Source:Am J Pathol;187(1):42-54, 2017 Jan.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The functional relevance of the innate immune system has not yet been dissected in P0 -induced murine experimental autoimmune neuritis. Therefore, the role of Toll-like receptor (TLR) 2, TLR4, myeloid differentiation response gene 88, and Toll-IL-1 receptor domain-containing adaptor-inducing interferon-γ (TRIF), factors critically involved in the TLR signaling pathway, was studied in experimental autoimmune neuritis. In the absence of TLR2, TLR4, myeloid differentiation response gene 88, or TRIF, the clinical course was significantly attenuated compared to wild-type mice. This could be attributed to impaired NF-κB activation, as shown by the absence of nuclear translocation of RelA with a decreased expression of IL-6, IL-12p40, and IL-17A. Remarkably, P0 -immunized TLR2 mice exhibited a delayed recovery as compared to TLR4 mice, which was because of an impaired T helper cell 2 polarization. Immunized TLR2 mice were unable to induce OX40 and OX40L by matrix metalloproteinase-2 on splenic dendritic cells. Subsequently, M2 polarization was impaired and macrophages were unable to sufficiently induce T regulatory cells (T ). Thus, in the recovery phase, T were significantly increased in TLR4 mice as compared to wild-type mice, whereas T in immunized TLR2 mice were only slightly increased. Our data highlight the relevance of innate immunity and, especially, the tight interaction between the innate and the adaptive immune system, which should be considered for therapeutic approaches of autoimmune diseases.
[Mh] Termos MeSH primário: Proteínas Adaptadoras de Transporte Vesicular/metabolismo
Fator 88 de Diferenciação Mieloide/metabolismo
Neurite Autoimune Experimental/metabolismo
Neurite Autoimune Experimental/patologia
Receptor 2 Toll-Like/metabolismo
Receptor 4 Toll-Like/metabolismo
[Mh] Termos MeSH secundário: Animais
Axônios/patologia
Linfócitos T CD4-Positivos/imunologia
Complemento C1q/imunologia
Progressão da Doença
Suscetibilidade a Doenças
Imunoglobulina G/sangue
Imunoglobulina M/sangue
Interferon gama/genética
Interferon gama/metabolismo
Contagem de Linfócitos
Ativação de Macrófagos
Metaloproteinase 2 da Matriz/metabolismo
Camundongos Endogâmicos C57BL
Músculo Esquelético/inervação
Músculo Esquelético/patologia
Proteína P0 da Mielina
NF-kappa B/metabolismo
Neurite Autoimune Experimental/sangue
Neurite Autoimune Experimental/imunologia
Ligante OX40/metabolismo
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Receptores OX40/metabolismo
Nervo Isquiático/metabolismo
Nervo Isquiático/patologia
Transdução de Sinais
Baço/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adaptor Proteins, Vesicular Transport); 0 (Immunoglobulin G); 0 (Immunoglobulin M); 0 (Myelin P0 Protein); 0 (Myeloid Differentiation Factor 88); 0 (NF-kappa B); 0 (OX40 Ligand); 0 (RNA, Messenger); 0 (Receptors, OX40); 0 (TICAM-1 protein, mouse); 0 (Toll-Like Receptor 2); 0 (Toll-Like Receptor 4); 80295-33-6 (Complement C1q); 82115-62-6 (Interferon-gamma); EC 3.4.24.24 (Matrix Metalloproteinase 2)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161115
[St] Status:MEDLINE


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[PMID]:27785594
[Au] Autor:Yang X; Chen J; Xue P; Liu R; Ji W; Lu X; Liu X; Chen Z
[Ad] Endereço:Department of Hand Surgery, Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.
[Ti] Título:Differentiation of bone marrow stromal cells into schwann-like cells using dihydrotestosterone combined with a classical induction method.
[So] Source:Biotechnol Lett;39(2):331-337, 2017 Feb.
[Is] ISSN:1573-6776
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate the effect of dihydrotestosterone (DHT) combined with Dezawa's method on the differentiation of bone marrow stromal cells (BMSCs) into schwann-like cells. RESULTS: Compared to the Dezawa's method, schwann-like cells obtained from our modified method were longer and thinner and exhibited a typical bipolar or tripolar shape. These cells had a higher mRNA expression of S100 and myelin protein zero (P0), about 1.7- and 2.5-fold respectively, while the glial fibrillary acidic protein (GFAP) mRNA level was decreased about 92 %. No significant difference in peripheral myelin protein 22 (PMP22) mRNA expression was found. Immunofluorescence and Western blot showed the similar results. CONCLUSION: DHT in combination with Dezawa's method to induce a BMSCs to differentiate into schwann-like cells with higher expression of P0, which might be more effective in clinical application than previous method for nerve regeneration.
[Mh] Termos MeSH primário: Células da Medula Óssea/citologia
Di-Hidrotestosterona/metabolismo
Células Mesenquimais Estromais/metabolismo
Células de Schwann/metabolismo
[Mh] Termos MeSH secundário: Animais
Diferenciação Celular/fisiologia
Células Cultivadas
Proteína Glial Fibrilar Ácida/metabolismo
Células Mesenquimais Estromais/citologia
Proteína P0 da Mielina/metabolismo
Ratos
Células de Schwann/citologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glial Fibrillary Acidic Protein); 0 (Myelin P0 Protein); 08J2K08A3Y (Dihydrotestosterone)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170308
[Lr] Data última revisão:
170308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161028
[St] Status:MEDLINE
[do] DOI:10.1007/s10529-016-2239-4


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[PMID]:27422849
[Au] Autor:Wang W; Litchy WJ; Mandrekar J; Dyck PJ; Klein CJ
[Ad] Endereço:Department of Neurology, Mayo Clinic, 200 First Street, SW, Rochester, Minnesota, 55905, USA.
[Ti] Título:Blink reflex role in algorithmic genetic testing of inherited polyneuropathies.
[So] Source:Muscle Nerve;55(3):316-322, 2017 Mar.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: In severely affected inherited polyneuropathy patients, primary demyelination can be difficult to determine by routine extremity limb nerve conduction studies (NCS). Blink reflexes may help classify severe polyneuropathies as either axonal or demyelinating. However, blink reflex studies have not been studied systematically in any genetically confirmed cohort. METHODS: Patients with a genetic diagnosis who had undergone blink reflex testing and extremity NCS were identified retrospectively. Blink reflex R1 latency, extremity NCS, and severity were compared. RESULTS: We identified 26 demyelinating and 23 axonal, genetically confirmed cases, including 20 with PMP22 duplications. In 12 (25%), the ulnar CMAP amplitude was ≤0.5 mV making electrophysiological classification difficult. However, the R1-latency cutoff of >13 ms (demyelinating) robustly classified all patients regardless of severity. CONCLUSIONS: We show that blink reflex studies are reliable for identification of inherited demyelinating polyneuropathy regardless of severity and can facilitate algorithmic decisions in genetic testing. Muscle Nerve 55: 316-322, 2017.
[Mh] Termos MeSH primário: Algoritmos
Piscadela/genética
Testes Genéticos
Mutação/genética
Proteínas da Mielina/genética
Polineuropatias/genética
Polineuropatias/fisiopatologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Estudos de Coortes
Eletromiografia
Feminino
Seres Humanos
Masculino
Meia-Idade
Proteína P0 da Mielina/genética
Condução Nervosa/genética
Proteínas Nucleares/genética
Análise de Regressão
Fatores de Transcrição/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (LITAF protein, human); 0 (MPZ protein, human); 0 (Myelin P0 Protein); 0 (Myelin Proteins); 0 (Nuclear Proteins); 0 (PMP22 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170703
[Lr] Data última revisão:
170703
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160717
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25250


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[PMID]:27807175
[Au] Autor:Sidoli M; Musner N; Silvestri N; Ungaro D; D'Antonio M; Cavener DR; Feltri ML; Wrabetz L
[Ad] Endereço:Hunter James Kelly Research Institute and.
[Ti] Título:Ablation of Perk in Schwann Cells Improves Myelination in the S63del Charcot-Marie-Tooth 1B Mouse.
[So] Source:J Neurosci;36(44):11350-11361, 2016 Nov 02.
[Is] ISSN:1529-2401
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In factory cells, the accumulation of misfolded protein provokes the unfolded protein response (UPR). For example, deletion of serine 63 (S63del) in myelin protein zero (P0) induces P0 accumulation in the endoplasmic reticulum (ER) of Schwann cells and a persistent UPR associated with Charcot-Marie-Tooth 1B (CMT1B) demyelinating peripheral neuropathy in human and mouse. PERK (protein kinase RNA-like ER kinase) is the ER stress sensor that attenuates global translation by phosphorylating eIF2α. Inhibition of the eIF2α holophosphatase GADD34:PP1, increases the phosphorylation of eIF2α in Schwann cells and largely rescues S63del neuropathy. Nonetheless, reducing phosphorylation of eIF2α, by Perk haploinsufficiency, also ameliorates the myelin defects of S63del nerves. This contradictory finding prompted us to investigate whether the beneficial effect of Perk deficiency on myelination could derive from neurons. To test this hypothesis, we generated and compared Schwann cell- and neuron-specific ablation of Perk in S63del nerves. Our data suggest that the detrimental effect of Perk in CMT1B derives primarily from Schwann cells. Furthermore, we show that Perk loss of function in Schwann cells restores myelination without diminishing accumulation of P0 or markers of ER stress, suggesting that Perk may modulate myelination through a pathway independent of the UPR. SIGNIFICANCE STATEMENT: In many endoplasmic reticulum (ER) stress-related disorders, activation of the unfolded protein sensor protein kinase RNA-like ER kinase (PERK) kinase is beneficial. Nonetheless, in Charcot-Marie-Tooth 1B neuropathy mice, we show that activation of PERK in Schwann cells, but not in neurons, is detrimental for myelination. PERK may interfere with myelination, independent of its role in ER stress.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/metabolismo
Doença de Charcot-Marie-Tooth/patologia
Bainha de Mielina/metabolismo
Bainha de Mielina/patologia
Células de Schwann/metabolismo
eIF-2 Quinase/metabolismo
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Feminino
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Proteína P0 da Mielina/genética
Proteína P0 da Mielina/metabolismo
Células de Schwann/patologia
Resposta a Proteínas não Dobradas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mpz protein, mouse); 0 (Myelin P0 Protein); EC 2.7.11.1 (PERK kinase); EC 2.7.11.1 (eIF-2 Kinase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161104
[St] Status:MEDLINE


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[PMID]:27530546
[Au] Autor:Rosberg MR; Alvarez S; Krarup C; Moldovan M
[Ad] Endereço:Department of Neuroscience and Pharmacology, Copenhagen University, Denmark.
[Ti] Título:An oral NaV1.8 blocker improves motor function in mice completely deficient of myelin protein P0.
[So] Source:Neurosci Lett;632:33-8, 2016 Oct 06.
[Is] ISSN:1872-7972
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Mice deficient of myelin protein P0 are established models of demyelinating Charcot-Marie-Tooth (CMT) disease. Dysmyelination in these mice is associated with an ectopic expression of the sensory neuron specific sodium channel isoform NaV1.8 on motor axons. We reported that in P0+/-, a model of CMT1B, the membrane dysfunction could be acutely improved by a novel oral NaV1.8 blocker referred to as Compound 31 (C31, Bioorg. Med. Chem. Lett. 2010, 20, 6812; AbbVie Inc.). The aim of this study was to investigate the extent to which C31 treatment could also improve the motor axon function in P0-/-, a CMT model with a much more severe neuropathy. We found that the progressive impairment of motor performance from 1 to 4 months of age in P0-/- could be acutely reversed by C31 treatment. The effect was associated with an improvement of the amplitude of the plantar CMAP evoked by tibial nerve stimulation. The corresponding motor nerve excitability studies by "threshold tracking" showed changes after C31 consistent with attenuation of a resting membrane depolarization. Our data suggest that the depolarizing motor conduction failure in P0-/- could be acutely improved by C31. This provides proof-of-concept that treatment with oral subtype-selective NaV1.8 blockers could be used to improve the motor function in severe forms of demyelinating CMT.
[Mh] Termos MeSH primário: Atividade Motora/efeitos dos fármacos
Proteína P0 da Mielina/genética
Canal de Sódio Disparado por Voltagem NAV1.8/metabolismo
Bloqueadores dos Canais de Sódio/farmacologia
[Mh] Termos MeSH secundário: Animais
Doença de Charcot-Marie-Tooth/genética
Doença de Charcot-Marie-Tooth/metabolismo
Modelos Animais de Doenças
Camundongos
Camundongos Knockout
Atividade Motora/genética
Neurônios Motores/efeitos dos fármacos
Proteína P0 da Mielina/metabolismo
Condução Nervosa/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Myelin P0 Protein); 0 (NAV1.8 Voltage-Gated Sodium Channel); 0 (Scn10a protein, mouse); 0 (Sodium Channel Blockers)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170808
[Lr] Data última revisão:
170808
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160818
[St] Status:MEDLINE


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[PMID]:27184910
[Au] Autor:Davis SW; Mortensen AH; Keisler JL; Zacharias AL; Gage PJ; Yamamura K; Camper SA
[Ad] Endereço:Department of Biological Sciences, University of South Carolina, 715 Sumter St. CLS room 401, Columbia, SC, 29208, USA. swdavis@mailbox.sc.edu.
[Ti] Título:ß-catenin is required in the neural crest and mesencephalon for pituitary gland organogenesis.
[So] Source:BMC Dev Biol;16(1):16, 2016 May 16.
[Is] ISSN:1471-213X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The pituitary gland is a highly vascularized tissue that requires coordinated interactions between the neural ectoderm, oral ectoderm, and head mesenchyme during development for proper physiological function. The interactions between the neural ectoderm and oral ectoderm, especially the role of the pituitary organizer in shaping the pituitary precursor, Rathke's pouch, are well described. However, less is known about the role of head mesenchyme in pituitary organogenesis. The head mesenchyme is derived from definitive mesoderm and neural crest, but the relative contributions of these tissues to the mesenchyme adjacent to the pituitary are not known. RESULTS: We carried out lineage tracing experiments using two neural crest-specific mouse cre lines, Wnt1-cre and P0-cre, and determined that the head mesenchyme rostral to the pituitary gland is neural crest derived. To assess the role of the neural crest in pituitary development we ablated it, using Wnt1-cre to delete Ctnnb1 (ß-catenin), which is required for neural crest development. The Wnt1-cre is active in the neural ectoderm, principally in the mesencephalon, but also in the posterior diencephalon. Loss of ß-catenin in this domain causes a rostral shift in the ventral diencephalon, including the pituitary organizer, resulting in pituitary dysmorphology. The neural crest deficient embryos have abnormally dilated pituitary vasculature due to a loss of neural crest derived pericytes. CONCLUSIONS: ß-catenin in the Wnt1 expression domain, including the neural crest, plays a critical role in regulation of pituitary gland growth, development, and vascularization.
[Mh] Termos MeSH primário: Regulação da Expressão Gênica no Desenvolvimento
Mesencéfalo/metabolismo
Crista Neural/metabolismo
Organogênese/genética
Hipófise/metabolismo
beta Catenina/genética
[Mh] Termos MeSH secundário: Animais
Embrião de Mamíferos/embriologia
Embrião de Mamíferos/metabolismo
Feminino
Imuno-Histoquímica
Hibridização In Situ
Masculino
Mesencéfalo/embriologia
Camundongos Endogâmicos C57BL
Camundongos Knockout
Camundongos Transgênicos
Microscopia de Fluorescência
Proteína P0 da Mielina/genética
Proteína P0 da Mielina/metabolismo
Crista Neural/embriologia
Hipófise/embriologia
Proteína Wnt1/genética
Proteína Wnt1/metabolismo
beta Catenina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Myelin P0 Protein); 0 (Wnt1 Protein); 0 (Wnt1 protein, mouse); 0 (beta Catenin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160518
[St] Status:MEDLINE
[do] DOI:10.1186/s12861-016-0118-9


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[PMID]:27164712
[Au] Autor:Wang W; Wang C; Dawson DB; Thorland EC; Lundquist PA; Eckloff BW; Wu Y; Baheti S; Evans JM; Scherer SS; Dyck PJ; Klein CJ
[Ad] Endereço:From the Departments of Neurology, Peripheral Nerve Division (W.W., P.J.D., C.J.K.), Department of Health Science Research (C.W., S.B., J.M.E.), Laboratory Medicine and Pathology (D.B.D., E.C.T., P.A.L., Y.W., C.J.K.), Medical Genome Facility (B.W.E., Y.W.), and Medical Genetics (C.J.K., D.B.D.), Ma
[Ti] Título:Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.
[So] Source:Neurology;86(19):1762-71, 2016 May 10.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To assess the efficiency of target-enrichment next-generation sequencing (NGS) with copy number assessment in inherited neuropathy diagnosis. METHODS: A 197 polyneuropathy gene panel was designed to assess for mutations in 93 patients with inherited or idiopathic neuropathy without known genetic cause. We applied our novel copy number variation algorithm on NGS data, and validated the identified copy number mutations using CytoScan (Affymetrix). Cost and efficacy of this targeted NGS approach was compared to earlier evaluations. RESULTS: Average coverage depth was ∼760× (median = 600, 99.4% > 100×). Among 93 patients, 18 mutations were identified in 17 cases (18%), including 3 copy number mutations: 2 PMP22 duplications and 1 MPZ duplication. The 2 patients with PMP22 duplication presented with bulbar and respiratory involvement and had absent extremity nerve conductions, leading to axonal diagnosis. Average onset age of these 17 patients was 25 years (2-61 years), vs 45 years for those without genetic discovery. Among those with onset age less than 40 years, the diagnostic yield of targeted NGS approach is high (27%) and cost savings is significant (∼20%). However, the cost savings for patients with late onset age and without family history is not demonstrated. CONCLUSIONS: Incorporating copy number analysis in target-enrichment NGS approach improved the efficiency of mutation discovery for chronic, inherited, progressive length-dependent polyneuropathy diagnosis. The new technology is facilitating a simplified genetic diagnostic algorithm utilizing targeted NGS, clinical phenotypes, age at onset, and family history to improve diagnosis efficiency. Our findings prompt a need for updating the current practice parameters and payer guidelines.
[Mh] Termos MeSH primário: Variações do Número de Cópias de DNA
Testes Genéticos/métodos
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Mutação
Polineuropatias/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Algoritmos
Criança
Pré-Escolar
Testes Genéticos/economia
Custos de Cuidados de Saúde
Sequenciamento de Nucleotídeos em Larga Escala/economia
Seres Humanos
Meia-Idade
Proteína P0 da Mielina/genética
Proteínas da Mielina/genética
Polineuropatias/economia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MPZ protein, human); 0 (Myelin P0 Protein); 0 (Myelin Proteins); 0 (PMP22 protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170510
[Lr] Data última revisão:
170510
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160511
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000002659


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[PMID]:27095827
[Au] Autor:Musner N; Sidoli M; Zambroni D; Del Carro U; Ungaro D; D'Antonio M; Feltri ML; Wrabetz L
[Ad] Endereço:Hunter James Kelly Research Institute, University at Buffalo, NY, USA.
[Ti] Título:Perk Ablation Ameliorates Myelination in S63del-Charcot-Marie-Tooth 1B Neuropathy.
[So] Source:ASN Neuro;8(2), 2016 Mar-Apr.
[Is] ISSN:1759-0914
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In peripheral nerves, P0 glycoprotein accounts for more than 20% of myelin protein content. P0 is synthesized by Schwann cells, processed in the endoplasmic reticulum (ER) and enters the secretory pathway. However, the mutant P0 with S63 deleted (P0S63del) accumulates in the ER lumen and induces a demyelinating neuropathy in Charcot-Marie-Tooth disease type 1B (CMT1B)-S63del mice. Accumulation of P0S63del in the ER triggers a persistent unfolded protein response. Protein kinase RNA-like endoplasmic reticulum kinase (PERK) is an ER stress sensor that phosphorylates eukaryotic initiation factor 2 alpha (eIF2alpha) in order to attenuate protein synthesis. We have shown that increasing phosphophorylated-eIF2alpha (P-eIF2alpha) is a potent therapeutic strategy, improving myelination and motor function in S63del mice. Here, we explore the converse experiment:Perkhaploinsufficiency reduces P-eIF2alpha in S63del nerves as expected, but surprisingly, ameliorates, rather than worsens S63del neuropathy. Motor performance and myelin abnormalities improved in S63del//Perk+/- compared with S63del mice. These data suggest that mechanisms other than protein translation might be involved in CMT1B/S63del neuropathy. In addition,Perkdeficiency in other cells may contribute to demyelination in a non-Schwann-cell autonomous manner.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/genética
Doença de Charcot-Marie-Tooth/fisiopatologia
Mutação/genética
eIF-2 Quinase/deficiência
[Mh] Termos MeSH secundário: Fatores Etários
Animais
Animais Recém-Nascidos
Células Cultivadas
Doença de Charcot-Marie-Tooth/metabolismo
Doença de Charcot-Marie-Tooth/patologia
Técnicas de Cocultura
Modelos Animais de Doenças
Embrião de Mamíferos
Gânglios Espinais/citologia
Regulação da Expressão Gênica/genética
Imunoprecipitação
Camundongos
Camundongos Transgênicos
Proteína Básica da Mielina/metabolismo
Proteína P0 da Mielina/genética
Proteína P0 da Mielina/metabolismo
Condução Nervosa/efeitos dos fármacos
Condução Nervosa/genética
Neurônios/efeitos dos fármacos
Proteína Fosfatase 1/genética
Proteína Fosfatase 1/metabolismo
Nervo Isquiático/metabolismo
Nervo Isquiático/patologia
eIF-2 Quinase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Myelin Basic Protein); 0 (Myelin P0 Protein); EC 2.7.11.1 (PERK kinase); EC 2.7.11.1 (eIF-2 Kinase); EC 3.1.3.16 (Ppp1r15a protein, mouse); EC 3.1.3.16 (Protein Phosphatase 1)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160421
[St] Status:MEDLINE



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