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[PMID]:28116993
[Au] Autor:Singh A; Mittal P; Goel P; Purohit BM; Thukral R
[Ad] Endereço:a Department of Dentistry, All India Institute of Medical Sciences (AIIMS), Ministry of Health and Family Welfare, Government of India, Bhopal, India.
[Ti] Título:Severity of illness and extra pyramidal symptoms as predictors for oral diseases among patients with schizophrenia.
[So] Source:Acta Odontol Scand;75(3):220-226, 2017 Apr.
[Is] ISSN:1502-3850
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The study explores the association between severity of illness (positive, negative, depressive and cognitive symptoms) and extra pyramidal symptoms (EPS) with dental caries, periodontal disease and prosthetic needs among patients with schizophrenia. MATERIAL AND METHODS: A total of 71 schizophrenic patients diagnosed based on ICD-10 criteria participated in the study. Clinical Global Impression - Schizophrenia (CGI-SCH) scale was used to evaluate positive, negative, depressive, cognitive symptoms and overall severity of schizophrenia. Simpson-Angus Scale (SAS) was used for assessment of EPS. Dental examinations were conducted as per WHO (1997) criterion. RESULTS: Mean DMFT and CPI scores with periodontal pockets were 5.57 ± 2.12 and 2.37 ± 0.74; significant differences being noted among those with and without EPS (p < 0.001). Positive and EPS associated with dental caries with odds ratio of 5.26 (1.05, 26.2) and 8.52 (2.31, 31.4) (p < 0.001). Depressive and EPS were associated with periodontal disease with odds ratio of 4.19 (1.53, 32.5) and 5.27 (1.29, 21.5), respectively (p < 0.001). Cognitive and EPS were associated with dental prosthetic needs with odds ratio of 4.33 (1.47, 31.2) (p < 0.001) and 7.78 (1.43, 42.2), respectively (p < 0.001). CONCLUSIONS: Patients with schizophrenia had high dental caries, periodontal disease and unmet dental prosthetic needs. Severity of the schizophrenic and EPS was associated with poor oral health. Efforts need to be focused on strengthening the evidence of its association with oral health indicators through further studies including cohort investigations.
[Mh] Termos MeSH primário: Cárie Dentária/etiologia
Tratos Extrapiramidais/fisiopatologia
Saúde Bucal/estatística & dados numéricos
Doenças Periodontais/etiologia
Esquizofrenia/complicações
[Mh] Termos MeSH secundário: Adulto
Assistência Odontológica/estatística & dados numéricos
Cárie Dentária/diagnóstico
Feminino
Seres Humanos
Masculino
Meia-Idade
Doenças Periodontais/diagnóstico
Índice de Gravidade de Doença
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170616
[Lr] Data última revisão:
170616
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170125
[St] Status:MEDLINE
[do] DOI:10.1080/00016357.2017.1278789


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[PMID]:27889833
[Au] Autor:Ribeiro SB; de Araújo AA; Medeiros CA; Chaves KM; Alves MD; Oliveira AG; Martins RR
[Ad] Endereço:Postgraduate Program in Pharmaceutical Science, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil.
[Ti] Título:Factors associated with expression of extrapyramidal symptoms in users of atypical antipsychotics.
[So] Source:Eur J Clin Pharmacol;73(3):351-355, 2017 Mar.
[Is] ISSN:1432-1041
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: The aim of this study was to investigate factors associated with the occurrence of extrapyramidal symptoms (EPS) in users of second-generation antipsychotics (SGA). METHODS: Observational cross-sectional study based on a random sample of subjects from three outpatient clinics. Inclusion criteria were age between 18 and 65 years, of both genders, with a diagnosis of schizophrenia and under the use of a single SGA agent. Subjects who had received i.m. long-acting antipsychotics in the past were excluded. The families of eligible patients were contacted by phone and, if willing to participate in the study, a household visit was scheduled. Informed consent was obtained from all study subjects and their next of kin. The risk of EPS associated with sociodemographic, clinical features and medications used was analyzed by logistic regression. RESULTS: The study population consisted of 213 subjects. EPS were observed in 38.0% of subjects. The more commonly used SGA were olanzapine (76, 35.7%), risperidone (74, 34.3%), quetiapine (26, 12.2%), and ziprasidone (23, 10.8%). Among the drugs used as adjunctive therapy for schizophrenia, benzodiazepines were the most prevalent (31.5%), followed by carbamazepine (24.4%) and antidepressants (20.2%). Multivariate analysis showed that the risk of EPS was associated with the use of carbamazepine (odds ratio 3.677, 95% CI 1.627-8.310). We found no evidence that the type of SGA modified the risk of EPS. CONCLUSION: The occurrence of EPS in SGA users is a common finding, with no difference of antipsychotics studied in relation to the risk of extrapyramidal manifestations. The adjunctive use of carbamazepine may predispose the user of SGA to the occurrence of EPS.
[Mh] Termos MeSH primário: Antipsicóticos/efeitos adversos
Tratos Extrapiramidais/efeitos dos fármacos
Esquizofrenia/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Estudos Transversais
Feminino
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Antipsychotic Agents)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161128
[St] Status:MEDLINE
[do] DOI:10.1007/s00228-016-2166-2


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[PMID]:26826634
[Au] Autor:Loonen AJ; Ivanova SA
[Ad] Endereço:Department of Pharmacy, University of Groningen, The Netherlands. Electronic address: a.j.m.loonen@rug.nl.
[Ti] Título:Circuits regulating pleasure and happiness in major depression.
[So] Source:Med Hypotheses;87:14-21, 2016 Feb.
[Is] ISSN:1532-2777
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The introduction of selective serotonin reuptake inhibitors has gradually changed the borders of the major depression disease class. Anhedonia was considered a cardinal symptom of endogenous depression, but the potential of selective serotonin reuptake inhibitors to treat anxiety disorders has increased the relevance of stress-induced morbidity. This shift has led to an important heterogeneity of current major depressive disorder. The complexity can be disentangled by postulating the existence of two different but mutually interacting neuronal circuits regulating the intensity of anhedonia (lack of pleasure) and dysphoria (lack of happiness). These circuits are functionally dominated by partly closed limbic (regulating misery-fleeing behaviour) and extrapyramidal (regulating reward-seeking behaviour) cortico-striato-thalamo-cortical (CSTC) circuits. The re-entry circuits include the shell and core parts of the accumbens nucleus, respectively. Pleasure can be considered to result from finding relief from the hypermotivation to exhibit rewarding behaviour, and happiness from finding relief from negative or conflicting circumstances. Hyperactivity of the extrapyramidal CSTC circuit results in craving, whereas hyperactivity of the limbic system results in dysphoria.
[Mh] Termos MeSH primário: Transtorno Depressivo Maior/fisiopatologia
Transtorno Depressivo Maior/psicologia
Felicidade
Prazer/fisiologia
[Mh] Termos MeSH secundário: Transtorno Depressivo Maior/tratamento farmacológico
Tratos Extrapiramidais/fisiopatologia
Seres Humanos
Sistema Límbico/fisiopatologia
Modelos Neurológicos
Modelos Psicológicos
Vias Neurais/fisiopatologia
Inibidores da Captação de Serotonina/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Serotonin Uptake Inhibitors)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160131
[St] Status:MEDLINE


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[PMID]:26342496
[Au] Autor:Zhang HY; Tang H; Chen WX; Ji GJ; Ye J; Wang N; Wu JT; Guan B
[Ad] Endereço:Department of Radiology, Subei People's Hospital of Jiangsu Province, Yangzhou University, Yangzhou 225001, China.
[Ti] Título:Mapping the functional connectivity of the substantia nigra, red nucleus and dentate nucleus: A network analysis hypothesis associated with the extrapyramidal system.
[So] Source:Neurosci Lett;606:36-41, 2015 Oct 08.
[Is] ISSN:1872-7972
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:This study aimed to examine the functional networks related to the extrapyramidal system using a temporal oscillation signal correlation analysis method based on critical nodes in the substantia nigra (SN), red nucleus (RN) and dentate nucleus (DN). Nineteen healthy subjects underwent resting-state fMRI and susceptibility weighted imaging (SWI). For the brain network analysis, the SN, RN and DN were positioned on susceptibility weighted images and used as seeds for temporal correlations analyzed via BOLD data. T-tests were performed for the correlation coefficients of each seed. We demonstrated that the SN, RN and DN were functionally connected to each other, and, in general, their connectivity maps overlapped in a series of subcortical extrapyramidal structures and regions of cerebral cortices. A Granger causality analysis indicated that the effective connectivity graphs within extrapyramidal structures mainly exhibited a spacial up-down pattern for the positive and negative influences, respectively. Our findings suggest that extensive regions involved in the extrapyramidal system constituted a relatively exclusive network via spatial-temporal correlation signals that analogously corresponded to the anatomical structures. The investigation of extrapyramidal system networks may have potential clinical implications.
[Mh] Termos MeSH primário: Núcleos Cerebelares/fisiologia
Tratos Extrapiramidais/fisiologia
Núcleo Rubro/fisiologia
Substância Negra/fisiologia
[Mh] Termos MeSH secundário: Adulto
Mapeamento Encefálico
Feminino
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1603
[Cu] Atualização por classe:151008
[Lr] Data última revisão:
151008
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150907
[St] Status:MEDLINE


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[PMID]:26247222
[Au] Autor:Benna P; Rubino E; Marino C; Montalenti E; Giovanna Caprioli M; Caprioli MG; Rainero I; Pinessi L
[Ad] Endereço:Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy Department of Neuroscience and Mental Health, A.O.U. Città della Salute e della Scienza, Torino, Italy. E-mail: elisa.rubino@unito.it.
[Ti] Título:Paroxysmal perceptual alteration in a schizophrenic patient treated with paliperidone: A case report.
[So] Source:Ann Clin Psychiatry;27(3):223-4, 2015 Aug.
[Is] ISSN:1547-3325
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Ilusões
Palmitato de Paliperidona
Distorção da Percepção
Esquizofrenia/tratamento farmacológico
Percepção Visual/efeitos dos fármacos
[Mh] Termos MeSH secundário: Antipsicóticos/administração & dosagem
Antipsicóticos/efeitos adversos
Substituição de Medicamentos/métodos
Tratos Extrapiramidais/efeitos dos fármacos
Feminino
Seres Humanos
Ilusões/efeitos dos fármacos
Ilusões/etiologia
Meia-Idade
Palmitato de Paliperidona/administração & dosagem
Palmitato de Paliperidona/efeitos adversos
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Antipsychotic Agents); R8P8USM8FR (Paliperidone Palmitate)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:150807
[Lr] Data última revisão:
150807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150807
[St] Status:MEDLINE


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[PMID]:26185277
[Au] Autor:Hawthorne JM; Caley CF
[Ad] Endereço:Providence VA Medical Center, Providence, RI, USA.
[Ti] Título:Extrapyramidal Reactions Associated with Serotonergic Antidepressants.
[So] Source:Ann Pharmacother;49(10):1136-52, 2015 Oct.
[Is] ISSN:1542-6270
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Extrapyramidal reactions (EPRs) associated with serotonergic antidepressant treatments have been reported since 1958. These reactions can be distressing for patients and complicate treatment. Our objective was to complete a follow-up review of published EPR cases reported for serotonergic antidepressants. DATA SOURCES: Published cases between January 1998 and May 2015 were collected through a medical literature search. Citation reference lists were also searched manually. STUDY SELECTION AND DATA EXTRACTION: Identified cases were reviewed for patient age, gender, psychiatric diagnosis, dosage, time to reaction onset, concurrent medications, and EPR description. Cases were excluded when there was not a clear description, if descriptions were not consistent with accepted definitions, or if the written English was poor. We included cases of akathisia, dystonia, dyskinesia, parkinsonism, or mixed EPRs. Authors scored each case using the Naranjo adverse drug reaction probability scale. DATA SYNTHESIS: We identified 86 published reports involving 91 patients; selective serotonin reuptake inhibitors were implicated in 80.2% of cases. All EPR types were reported: 17 akathisia cases, 18 dyskinesia cases, 27 dystonia cases, 19 parkinsonism cases, and 10 mixed EPR cases. EPRs typically occurred within 30 days of either treatment initiation or dose increase. Age, gender, antidepressant dosing, or concurrent antipsychotic treatment did not appear to broadly contribute to EPR risk. Naranjo scores ranged from 2 to 8. CONCLUSIONS: Case reports associating serotonergic antidepressants with EPRs continue to be published. Practitioners are advised that monitoring for such is important. Rigorous research efforts are needed to better understand the clinical risk factors for these adverse drug reactions.
[Mh] Termos MeSH primário: Antidepressivos/efeitos adversos
Tratos Extrapiramidais/efeitos dos fármacos
Inibidores da Captação de Serotonina/efeitos adversos
[Mh] Termos MeSH secundário: Inibidores da Captação Adrenérgica/efeitos adversos
Fatores Etários
Acatisia Induzida por Medicamentos/etiologia
Acatisia Induzida por Medicamentos/fisiopatologia
Antipsicóticos/efeitos adversos
Discinesia Induzida por Medicamentos/etiologia
Discinesia Induzida por Medicamentos/fisiopatologia
Tratos Extrapiramidais/fisiopatologia
Feminino
Seres Humanos
Masculino
Doença de Parkinson Secundária/etiologia
Doença de Parkinson Secundária/fisiopatologia
Agitação Psicomotora/tratamento farmacológico
Fatores de Risco
Fatores Sexuais
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Adrenergic Uptake Inhibitors); 0 (Antidepressive Agents); 0 (Antipsychotic Agents); 0 (Serotonin Uptake Inhibitors)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:150911
[Lr] Data última revisão:
150911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150718
[St] Status:MEDLINE
[do] DOI:10.1177/1060028015594812


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[PMID]:25962557
[Au] Autor:Avecillas-Chasin JM; Alonso-Frech F; Parras O; Del Prado N; Barcia JA
[Ad] Endereço:Department of Neurosurgery, Institute of Neurosciences, Instituto de Investigación Sanitaria San Carlos, Hospital Clínico San Carlos, Prof. Martín Lagos s/n, 28040, Madrid, Spain.
[Ti] Título:Assessment of a method to determine deep brain stimulation targets using deterministic tractography in a navigation system.
[So] Source:Neurosurg Rev;38(4):739-50; discussion 751, 2015 Oct.
[Is] ISSN:1437-2320
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Recent advances in imaging permit radiologic identification of target structures for deep brain stimulation (DBS) for movement disorders. However, these methods cannot detect the internal subdivision and thus cannot determine the appropriate DBS target located within those subdivisions. The aim of this study is to provide a straightforward method to obtain an optimized target (OT) within DBS target nuclei using a widely available navigation system. We used T1- and T2-weighted images, fluid-attenuated inversion recovery (FLAIR) sequence, and diffusion tensor imaging (DTI) of nine patients operated for DBS in our center. Using the StealthViz® software, we segmented the targeted deep structures (subcortical targets) and the anatomically identifiable areas to which these target nuclei were connected (projection areas). We generated fiber tracts from the projection areas. By identifying their intersections with the subcortical targets, we obtained an OT within the DBS target nuclei. We computed the distances from the clinically effective electrode contacts (CEEC) to the OT obtained by our method and the targets provided by the atlas. These distances were compared using a Wilcoxon signed-rank test, with p < 0.05 considered statistically significant. We were able to identify OT coincident with the motor part of the subthalamic nucleus and the ventral intermediate nucleus. We clinically tested the results and found that the CEEC were significantly more closely related to the OT than with the targets obtained by the atlas. Our present results show that this novel method permits optimization of the stimulation site within the internal subdivisions of target nuclei for DBS.
[Mh] Termos MeSH primário: Estimulação Encefálica Profunda/métodos
Imagem de Tensor de Difusão/métodos
Neuronavegação/métodos
Procedimentos Neurocirúrgicos/métodos
Cirurgia Assistida por Computador/métodos
[Mh] Termos MeSH secundário: Adulto
Idoso
Atlas como Assunto
Gânglios da Base/anatomia & histologia
Gânglios da Base/cirurgia
Eletrodos
Tremor Essencial/terapia
Tratos Extrapiramidais/anatomia & histologia
Tratos Extrapiramidais/cirurgia
Feminino
Seres Humanos
Masculino
Meia-Idade
Doença de Parkinson/terapia
Software
Técnicas Estereotáxicas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1606
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150513
[St] Status:MEDLINE
[do] DOI:10.1007/s10143-015-0643-1


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[PMID]:25666586
[Au] Autor:García-Alías G; Truong K; Shah PK; Roy RR; Edgerton VR
[Ad] Endereço:Department of Integrative Biology and Physiology, University of California, Los Angeles, USA. Electronic address: guillermo284@gmail.com.
[Ti] Título:Plasticity of subcortical pathways promote recovery of skilled hand function in rats after corticospinal and rubrospinal tract injuries.
[So] Source:Exp Neurol;266:112-9, 2015 Apr.
[Is] ISSN:1090-2430
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The corticospinal and rubrospinal tracts are the predominant tracts for controlling skilled hand function. Injuries to these tracts impair grasping but not gross motor functions such as overground locomotion. The aim of the present study was to determine whether or not, after damage to both the corticospinal and rubrospinal tracts, other spared subcortical motor pathway can mediate the recovery of skilled hand function. Adult rats received a bilateral injury to the corticospinal tract at the level of the medullar pyramids and a bilateral ablation of the rubrospinal axons at C4. One group of rats received, acutely after injury, two injections of chondroitinase-ABC at C7, and starting at 7days post-injury were enrolled in daily reaching and grasping rehabilitation (CHASE group, n=5). A second group of rats received analogous injections of ubiquitous penicillinase, and did not undergo rehabilitation (PEN group, n=5). Compared to rats in the PEN group, CHASE rats gradually recovered the ability to reach and grasp over 42days after injury. Overground locomotion was mildly affected after injury and both groups followed similar recovery. Since the reticulospinal tract plays a predominant role in motor control, we further investigated whether or not plasticity of this pathway could contribute to the animal's recovery. Reticulospinal axons were anterogradely traced in both groups of rats. The density of reticulospinal processes in both the normal and ectopic areas of the grey ventral matter of the caudal segments of the cervical spinal cord was greater in the CHASE than PEN group. The results indicate that after damage to spinal tracts that normally mediate the control of reaching and grasping in rats other complementary spinal tracts can acquire the role of those damaged tracts and promote task-specific recovery.
[Mh] Termos MeSH primário: Tratos Extrapiramidais/lesões
Tratos Extrapiramidais/fisiopatologia
Membro Anterior/fisiopatologia
Destreza Motora
Vias Neurais/fisiopatologia
Plasticidade Neuronal
Tratos Piramidais/lesões
Tratos Piramidais/fisiopatologia
Recuperação de Função Fisiológica
[Mh] Termos MeSH secundário: Animais
Feminino
Força da Mão
Locomoção
Desempenho Psicomotor
Ratos
Ratos Long-Evans
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1505
[Cu] Atualização por classe:150401
[Lr] Data última revisão:
150401
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150211
[St] Status:MEDLINE


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[PMID]:25022088
[Au] Autor:Limmroth V
[Ti] Título:[Writer's cramp amd Raynaud phenomenon. How do they go together?].
[Ti] Título:Schreibkrampf und Raynaud-Phänomen. Wie wirken die zusammen?.
[So] Source:MMW Fortschr Med;156(11):32, 2014 Jun 12.
[Is] ISSN:1438-3276
[Cp] País de publicação:Germany
[La] Idioma:ger
[Mh] Termos MeSH primário: Distúrbios Distônicos/complicações
Doença de Raynaud/complicações
[Mh] Termos MeSH secundário: Adulto
Sistema Nervoso Autônomo/fisiopatologia
Distúrbios Distônicos/fisiopatologia
Tratos Extrapiramidais/fisiopatologia
Seres Humanos
Masculino
Nervos Periféricos/fisiopatologia
Doença de Raynaud/fisiopatologia
[Pt] Tipo de publicação:NEWS
[Em] Mês de entrada:1409
[Cu] Atualização por classe:140715
[Lr] Data última revisão:
140715
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140716
[St] Status:MEDLINE


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[PMID]:24336167
[Au] Autor:Logan CV; Szabadkai G; Sharpe JA; Parry DA; Torelli S; Childs AM; Kriek M; Phadke R; Johnson CA; Roberts NY; Bonthron DT; Pysden KA; Whyte T; Munteanu I; Foley AR; Wheway G; Szymanska K; Natarajan S; Abdelhamed ZA; Morgan JE; Roper H; Santen GW; Niks EH; van der Pol WL; Lindhout D; Raffaello A; De Stefani D; den Dunnen JT; Sun Y; Ginjaar I; Sewry CA; Hurles M; Rizzuto R; Duchen MR; Muntoni F; Sheridan E; UK10K Consortium
[Ti] Título:Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
[So] Source:Nat Genet;46(2):188-93, 2014 Feb.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mitochondrial Ca(2+) uptake has key roles in cell life and death. Physiological Ca(2+) signaling regulates aerobic metabolism, whereas pathological Ca(2+) overload triggers cell death. Mitochondrial Ca(2+) uptake is mediated by the Ca(2+) uniporter complex in the inner mitochondrial membrane, which comprises MCU, a Ca(2+)-selective ion channel, and its regulator, MICU1. Here we report mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder. In fibroblasts from subjects with MICU1 mutations, agonist-induced mitochondrial Ca(2+) uptake at low cytosolic Ca(2+) concentrations was increased, and cytosolic Ca(2+) signals were reduced. Although resting mitochondrial membrane potential was unchanged in MICU1-deficient cells, the mitochondrial network was severely fragmented. Whereas the pathophysiology of muscular dystrophy and the core myopathies involves abnormal mitochondrial Ca(2+) handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca(2+) signaling, demonstrating the crucial role of mitochondrial Ca(2+) uptake in humans.
[Mh] Termos MeSH primário: Sinalização do Cálcio/genética
Proteínas de Ligação ao Cálcio/genética
Proteínas de Transporte de Cátions/genética
Transtornos de Aprendizagem/genética
Mitocôndrias/metabolismo
Proteínas de Transporte da Membrana Mitocondrial/genética
Transtornos dos Movimentos/genética
Doenças Musculares/genética
Fenótipo
[Mh] Termos MeSH secundário: Análise de Variância
Sequência de Bases
Canais de Cálcio/metabolismo
Sinalização do Cálcio/fisiologia
Proteínas de Ligação ao Cálcio/metabolismo
Proteínas de Transporte de Cátions/metabolismo
DNA Complementar/genética
Exoma/genética
Tratos Extrapiramidais/patologia
Imunofluorescência
Técnicas Histológicas
Seres Humanos
Imuno-Histoquímica
Potencial da Membrana Mitocondrial/genética
Proteínas de Transporte da Membrana Mitocondrial/metabolismo
Dados de Sequência Molecular
Linhagem
Polimorfismo de Nucleotídeo Único/genética
Músculo Quadríceps/patologia
Reação em Cadeia da Polimerase em Tempo Real
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Calcium Channels); 0 (Calcium-Binding Proteins); 0 (Cation Transport Proteins); 0 (DNA, Complementary); 0 (MICU1 protein, human); 0 (Mitochondrial Membrane Transport Proteins); 0 (mitochondrial calcium uniporter)
[Em] Mês de entrada:1403
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:131217
[St] Status:MEDLINE
[do] DOI:10.1038/ng.2851



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