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[PMID]:27864740
[Au] Autor:Gaál Z; Oláh É; Rejto L; Bálint BL; Csernoch L
[Ad] Endereço:Department of Physiology, University of Debrecen, Nagyerdei krt. 98. PO box 22, Debrecen, 4012, Hungary.
[Ti] Título:Expression Levels of Warburg-Effect Related microRNAs Correlate with each Other and that of Histone Deacetylase Enzymes in Adult Hematological Malignancies with Emphasis on Acute Myeloid Leukemia.
[So] Source:Pathol Oncol Res;23(1):207-216, 2017 Jan.
[Is] ISSN:1532-2807
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Disruption of epigenetic regulation and characteristic metabolic alterations (known as the Warburg-effect) are well-known hallmarks of cancer. In our study we investigated the expression levels of microRNAs and histone deacetylase enzymes via RT-qPCR in bone marrow specimens of adult patients suffering from hematological malignancies (total cohort n = 40), especially acute myeloid leukemia (n = 27). The levels of the three examined Warburg-effect related microRNAs (miR-378*, miR-23b, miR-26a) positively correlated with each other and the oncogenic miR-155 and miR-125b, while negatively with the level of the tumorsuppressor miR-124. Significant relationships have been confirmed between the levels of SIRT6, HDAC4 and the microRNAs listed above. In NPM1-mutated AML (n = 6), the level of miR-125b was significantly lower than in the group of AML patients not carrying this mutation (n = 13) (p < 0.05). In M5 FAB type of AML (n = 5), the level of miR-124 was significantly higher compared to the M2 group (n = 7) (p < 0.05). In two cases of FAB M5 AML, the levels of SIRT6 and miR-26a increased during the first 4 weeks of treatment. In the total cohort, white blood cell count at the time of the diagnosis significantly correlated with the levels of HDAC4, SIRT6, miR-124 and miR-26a. Our results suggest that Warburg-effect related microRNAs may have important role in the pathogenesis of leukemia, and the potential oncogenic property of HDAC4 and SIRT6 cannot be excluded in hematological malignancies. Elevated level of miR-125b can contribute to adverse prognosis of AML without NPM1 mutation. The prevailment of the tumorsuppressor property of miR-124 may depend on the accompanying genetic alterations.
[Mh] Termos MeSH primário: Neoplasias Hematológicas/genética
Histona Desacetilases/genética
Leucemia Mieloide Aguda/genética
MicroRNAs/genética
Síndrome de Walker-Warburg/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Epigênese Genética/genética
Seres Humanos
Meia-Idade
Mutação/genética
Proteínas Repressoras/genética
Sirtuínas/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MicroRNAs); 0 (Repressor Proteins); EC 3.5.1.- (SIRT6 protein, human); EC 3.5.1.- (Sirtuins); EC 3.5.1.98 (HDAC4 protein, human); EC 3.5.1.98 (Histone Deacetylases)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161120
[St] Status:MEDLINE
[do] DOI:10.1007/s12253-016-0151-9


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[PMID]:27869077
[Au] Autor:Udd B; Brignol TN; Andoni Urtizberea J
[Ad] Endereço:Université de Tampere, Finlande.
[Ti] Título:[Finland: an ideally valued genetic heritage].
[Ti] Título:La Finlande : un héritage génétique idéalement mis en valeur..
[So] Source:Med Sci (Paris);32 Hors série n°2:52-54, 2016 Nov.
[Is] ISSN:1958-5381
[Cp] País de publicação:France
[La] Idioma:fre
[Mh] Termos MeSH primário: Doenças Neuromusculares/genética
[Mh] Termos MeSH secundário: Pesquisa Biomédica
Finlândia
História do Século XX
História do Século XXI
Seres Humanos
Distrofias Musculares/genética
Doenças Neuromusculares/história
Síndrome de Walker-Warburg/genética
[Pt] Tipo de publicação:HISTORICAL ARTICLE; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170327
[Lr] Data última revisão:
170327
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161122
[St] Status:MEDLINE


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[PMID]:27869076
[Au] Autor:Bouchet-Séraphin C; Chelbi-Viallon M; Vuillaumier-Barrot S; Seta N
[Ad] Endereço:AP-HP, Hôpital Bichat Claude Bernard, Service de Biochimie, 75018 Paris, France - AP-HP, Hôpital Bichat Claude Bernard, Département de Génétique, 75018 Paris, France.
[Ti] Título:[Genes of alpha-dystroglycanopathies in 2016].
[Ti] Título:Gènes impliqués dans les alpha-dystroglycanopathies - Le point en 2016..
[So] Source:Med Sci (Paris);32 Hors série n°2:40-45, 2016 Nov.
[Is] ISSN:1958-5381
[Cp] País de publicação:France
[La] Idioma:fre
[Mh] Termos MeSH primário: Síndrome de Walker-Warburg/genética
[Mh] Termos MeSH secundário: Distroglicanas/genética
Glicosiltransferases/genética
Seres Humanos
Manosiltransferases/genética
Mutação
N-Acetilglucosaminiltransferases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
146888-27-9 (Dystroglycans); EC 2.4.- (GTDC2 protein, human); EC 2.4.- (Glycosyltransferases); EC 2.4.1.- (Mannosyltransferases); EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.- (protein O-mannose beta-1,2-N-acetylglucosaminyltransferase); EC 2.4.1.109 (protein O-mannosyltransferase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170327
[Lr] Data última revisão:
170327
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161122
[St] Status:MEDLINE


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[PMID]:27716553
[Au] Autor:Finsterer J; Zarrouk-Mahjoub S
[Ad] Endereço:Krankenanstalt Rudolfstiftung, Vienna, Austria. Electronic address: fifigs1@yahoo.de.
[Ti] Título:Fukutin mutations in Fukuyama congenital muscular dystrophy do not cause noncompaction.
[So] Source:Int J Cardiol;225:75-76, 2016 Dec 15.
[Is] ISSN:1874-1754
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Miocárdio Ventricular não Compactado Isolado/genética
Proteínas de Membrana/genética
Mutação/genética
Síndrome de Walker-Warburg/genética
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Miocárdio Ventricular não Compactado Isolado/diagnóstico por imagem
Miocárdio Ventricular não Compactado Isolado/fisiopatologia
Masculino
Distrofias Musculares/diagnóstico por imagem
Distrofias Musculares/fisiopatologia
Síndrome de Walker-Warburg/diagnóstico por imagem
Síndrome de Walker-Warburg/fisiopatologia
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (FKTN protein, human); 0 (Membrane Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161008
[St] Status:MEDLINE


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[PMID]:27601598
[Au] Autor:Yagi H; Kuo CW; Obayashi T; Ninagawa S; Khoo KH; Kato K
[Ad] Endereço:From the ‡Graduate School of Pharmaceutical Sciences, Nagoya City University, 3-1 Tanabe-dori, Mizuho-ku, Nagoya 467-8603, Japan.
[Ti] Título:Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy.
[So] Source:Mol Cell Proteomics;15(11):3424-3434, 2016 Nov.
[Is] ISSN:1535-9484
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dystroglycanopathy is a major class of congenital muscular dystrophy caused by a deficiency of functional glycans on α-dystroglycan (αDG) with laminin-binding activity. Recent advances have led to identification of several causative gene products of dystroglycanopathy and characterization of their in vitro enzymatic activities. However, the in vivo functional roles remain equivocal for enzymes such as ISPD, FKTN, FKRP, and TMEM5 that are supposed to be involved in post-phosphoryl modifications linking the GalNAc-ß3-GlcNAc-ß4-Man-6-phosphate core and the outer laminin-binding glycans. Herein, by direct nano-LC-MS /MS analysis of tryptic glycopeptides derived from a truncated recombinant αDG expressed in the wild-type and a panel of mutated cells deficient in one of these enzymes, we sought to define the full extent of variable modifications on this phosphorylated core O-glycan at the functional Thr /Thr sites. We showed that the most abundant glycoforms carried a phosphorylated core at each of the two sites, with and without a single ribitol phosphate (RboP) extending from terminal HexNAc. At much lower signal intensity, a novel substituent tentatively assigned as glycerol phosphate (GroP) was additionally detected. As expected, tandem RboP extended with a GlcA-Xyl unit was only identified in wild type, whereas knocking out of either ISPD or FKTN prevented formation of RboP. In the absence of FKRP, glycoforms with single but not tandem RboP accumulated, consistent with the suggested role of this enzyme in transferring the second RboP. Intriguingly, the single GroP modification also required functional FKTN whereas absence of TMEM5 significantly hindered only the addition of RboP. Our findings thus revealed additional levels of complexity associated with the core structures, suggesting functional interplay among these enzymes through their interactions. The simplified analytical workflow developed here should facilitate rapid mapping across a wider range of cell types to gain better insights into its physiological relevance.
[Mh] Termos MeSH primário: Distroglicanas/química
Proteínas de Membrana/genética
Nucleotidiltransferases/genética
Síndrome de Walker-Warburg/genética
[Mh] Termos MeSH secundário: Técnicas de Inativação de Genes
Predisposição Genética para Doença
Células HCT116
Células HEK293
Seres Humanos
Fosforilação
Proteínas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FKRP protein, human); 0 (FKTN protein, human); 0 (Membrane Proteins); 0 (Proteins); 0 (TMEM5 protein, human); 146888-27-9 (Dystroglycans); EC 2.7.7.- (ISPD protein, human); EC 2.7.7.- (Nucleotidyltransferases)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160908
[St] Status:MEDLINE


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[PMID]:27508411
[Au] Autor:Timbers TA; Garland SJ; Mohan S; Flibotte S; Edgley M; Muncaster Q; Au V; Li-Leger E; Rosell FI; Cai J; Rademakers S; Jansen G; Moerman DG; Leroux MR
[Ad] Endereço:Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
[Ti] Título:Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT).
[So] Source:PLoS Genet;12(8):e1006235, 2016 Aug.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Forward genetic screens represent powerful, unbiased approaches to uncover novel components in any biological process. Such screens suffer from a major bottleneck, however, namely the cloning of corresponding genes causing the phenotypic variation. Reverse genetic screens have been employed as a way to circumvent this issue, but can often be limited in scope. Here we demonstrate an innovative approach to gene discovery. Using C. elegans as a model system, we used a whole-genome sequenced multi-mutation library, from the Million Mutation Project, together with the Sequence Kernel Association Test (SKAT), to rapidly screen for and identify genes associated with a phenotype of interest, namely defects in dye-filling of ciliated sensory neurons. Such anomalies in dye-filling are often associated with the disruption of cilia, organelles which in humans are implicated in sensory physiology (including vision, smell and hearing), development and disease. Beyond identifying several well characterised dye-filling genes, our approach uncovered three genes not previously linked to ciliated sensory neuron development or function. From these putative novel dye-filling genes, we confirmed the involvement of BGNT-1.1 in ciliated sensory neuron function and morphogenesis. BGNT-1.1 functions at the trans-Golgi network of sheath cells (glia) to influence dye-filling and cilium length, in a cell non-autonomous manner. Notably, BGNT-1.1 is the orthologue of human B3GNT1/B4GAT1, a glycosyltransferase associated with Walker-Warburg syndrome (WWS). WWS is a multigenic disorder characterised by muscular dystrophy as well as brain and eye anomalies. Together, our work unveils an effective and innovative approach to gene discovery, and provides the first evidence that B3GNT1-associated Walker-Warburg syndrome may be considered a ciliopathy.
[Mh] Termos MeSH primário: Anormalidades do Olho/genética
Morfogênese/genética
N-Acetilglucosaminiltransferases/genética
Células Receptoras Sensoriais/metabolismo
[Mh] Termos MeSH secundário: Animais
Encéfalo/metabolismo
Encéfalo/patologia
Caenorhabditis elegans/genética
Cílios/genética
Cílios/metabolismo
Anormalidades do Olho/patologia
Genoma
Seres Humanos
Distrofias Musculares/genética
Distrofias Musculares/patologia
Mutação
Fenótipo
Células Receptoras Sensoriais/patologia
Síndrome de Walker-Warburg/genética
Rede trans-Golgi/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.149 (B3GNT1 protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170523
[Lr] Data última revisão:
170523
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160811
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006235


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[PMID]:27263464
[Au] Autor:Shukla S; Parker R
[Ad] Endereço:Department of Chemistry and Biochemistry, University of Colorado Boulder, Boulder, CO, USA.
[Ti] Título:Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.
[So] Source:Trends Mol Med;22(7):615-28, 2016 Jul.
[Is] ISSN:1471-499X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A key aspect of cellular function is the proper assembly and utilization of ribonucleoproteins (RNPs). Recent studies have shown that hyper- or hypo-assembly of various RNPs can lead to human diseases. Defects in the formation of RNPs lead to 'RNP hypo-assembly diseases', which can be caused by RNA degradation outcompeting RNP assembly. By contrast, excess RNP assembly, either in higher order RNP granules, or due to the expression of repeat-containing RNAs, can lead to 'RNP hyper-assembly diseases'. Here, we discuss the most recent advances in understanding the cause of disease onset, as well as potential therapies from the aspect of modulating RNP assembly in the cell, which presents a novel route to the treatment of these diseases.
[Mh] Termos MeSH primário: Disceratose Congênita/metabolismo
Atrofia Muscular Espinal/metabolismo
Ribonucleoproteínas/metabolismo
[Mh] Termos MeSH secundário: Animais
Nanismo/genética
Nanismo/metabolismo
Nanismo/patologia
Disceratose Congênita/genética
Disceratose Congênita/patologia
Retardo do Crescimento Fetal/genética
Retardo do Crescimento Fetal/metabolismo
Retardo do Crescimento Fetal/patologia
Cabelo/anormalidades
Cabelo/metabolismo
Cabelo/patologia
Doença de Hirschsprung/genética
Doença de Hirschsprung/metabolismo
Doença de Hirschsprung/patologia
Seres Humanos
Síndromes de Imunodeficiência/genética
Síndromes de Imunodeficiência/metabolismo
Síndromes de Imunodeficiência/patologia
Corpos de Mallory/genética
Corpos de Mallory/metabolismo
Corpos de Mallory/patologia
Microcefalia/genética
Microcefalia/metabolismo
Microcefalia/patologia
Atrofia Muscular Espinal/genética
Atrofia Muscular Espinal/patologia
Distrofias Musculares/genética
Distrofias Musculares/metabolismo
Distrofias Musculares/patologia
Mutação
Osteocondrodisplasias/congênito
Osteocondrodisplasias/genética
Osteocondrodisplasias/metabolismo
Osteocondrodisplasias/patologia
Doença de Parkinson/genética
Doença de Parkinson/metabolismo
Doença de Parkinson/patologia
Estabilidade de RNA
Ribonucleoproteínas/análise
Ribonucleoproteínas/genética
Escoliose/genética
Escoliose/metabolismo
Escoliose/patologia
Síndrome de Walker-Warburg/genética
Síndrome de Walker-Warburg/metabolismo
Síndrome de Walker-Warburg/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Ribonucleoproteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160607
[St] Status:MEDLINE


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[PMID]:26948708
[Au] Autor:Saunier M; Bönnemann CG; Durbeej M; Allamand V; CMD Animal Model Consortium
[Ad] Endereço:UPMC Univ Paris 06, Inserm UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, GH Pitié-Salpêtrière, Sorbonne Universités, F-75013 Paris, France.
[Ti] Título:212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015.
[So] Source:Neuromuscul Disord;26(3):252-9, 2016 Mar.
[Is] ISSN:1873-2364
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Modelos Animais de Doenças
Distrofias Musculares/congênito
Distrofias Musculares/genética
[Mh] Termos MeSH secundário: Animais
Colágeno Tipo VI/genética
Seres Humanos
Laminina/genética
Camundongos
Camundongos Transgênicos
Distrofia Muscular Animal/genética
Distrofia Muscular Animal/patologia
Países Baixos
Síndrome de Walker-Warburg/genética
Síndrome de Walker-Warburg/patologia
[Pt] Tipo de publicação:CONGRESSES; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Col6a1 protein, human); 0 (Collagen Type VI); 0 (Laminin); 0 (laminin alpha 2)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170426
[Lr] Data última revisão:
170426
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160308
[St] Status:MEDLINE


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[PMID]:26900448
[Au] Autor:Kim J; Hopkinson M; Kavishwar M; Fernandez-Fuente M; Brown SC
[Ad] Endereço:Department of Comparative Biomedical Sciences, Royal Veterinary College, University of London, London, UK.
[Ti] Título:Prenatal muscle development in a mouse model for the secondary dystroglycanopathies.
[So] Source:Skelet Muscle;6:3, 2016.
[Is] ISSN:2044-5040
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The defective glycosylation of α-dystroglycan is associated with a group of muscular dystrophies that are collectively referred to as the secondary dystroglycanopathies. Mutations in the gene encoding fukutin-related protein (FKRP) are one of the most common causes of secondary dystroglycanopathy in the UK and are associated with a wide spectrum of disease. Whilst central nervous system involvement has a prenatal onset, no studies have addressed prenatal muscle development in any of the mouse models for this group of diseases. In view of the pivotal role of α-dystroglycan in early basement membrane formation, we sought to determine if the muscle formation was altered in a mouse model of FKRP-related dystrophy. RESULTS: Mice with a knock-down in FKRP (FKRP(KD)) showed a marked reduction in α-dystroglycan glycosylation and reduction in laminin binding by embryonic day 15.5 (E15.5), relative to wild type controls. In addition, the total number of Pax7(+) progenitor cells in the FKRP(KD) tibialis anterior at E15.5 was significantly reduced, and myotube cluster/myofibre size showed a significant reduction in size. Moreover, myoblasts isolated from the limb muscle of these mice at E15.5 showed a marked reduction in their ability to form myotubes in vitro. CONCLUSIONS: These data identify an early reduction of laminin α2, reduction of myogenicity and depletion of Pax7(+) progenitor cells which would be expected to compromise subsequent postnatal muscle growth and its ability to regenerate postnatally. These findings are of significance to the development of future therapies in this group of devastating conditions.
[Mh] Termos MeSH primário: Desenvolvimento Muscular
Músculo Esquelético/fisiopatologia
Síndrome de Walker-Warburg/fisiopatologia
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Modelos Animais de Doenças
Distroglicanas/metabolismo
Predisposição Genética para Doença
Idade Gestacional
Glicosilação
Laminina/metabolismo
Camundongos Knockout
Fibras Musculares Esqueléticas/metabolismo
Músculo Esquelético/embriologia
Músculo Esquelético/metabolismo
Mioblastos Esqueléticos/metabolismo
Fator de Transcrição PAX7/metabolismo
Fenótipo
Processamento de Proteína Pós-Traducional
Proteínas/genética
Proteínas/metabolismo
Síndrome de Walker-Warburg/embriologia
Síndrome de Walker-Warburg/genética
Síndrome de Walker-Warburg/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Fkrp protein, mouse); 0 (Laminin); 0 (PAX7 Transcription Factor); 0 (Pax7 protein, mouse); 0 (Proteins); 0 (laminin alpha 2); 146888-27-9 (Dystroglycans)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160223
[St] Status:MEDLINE
[do] DOI:10.1186/s13395-016-0073-y


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[PMID]:26873231
[Au] Autor:Ishigaki K
[Ad] Endereço:Department of Pediatrics, Tokyo Women's Medical University, School of Medicine.
[Ti] Título:[Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].
[So] Source:Brain Nerve;68(2):119-27, 2016 Feb.
[Is] ISSN:1881-6096
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Fukuyama congenital muscular dystrophy (FCMD), the second most common muscular dystrophy in the Japanese population, is an autosomal recessive disorder caused by mutations in the fukutin (FKTN) gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with mental retardation and seizures associated with cortical migration defects. The FKTN gene product is thought to be necessary for maintaining migrating neurons in an immature state during migration, and for supporting migration via α-dystroglycan in the central nervous system. Typical magnetic resonance imaging findings in FCMD patients are cobblestone lissencephaly and cerebellar cystic lesions. White matter abnormalities with hyperintensity on T(2)-weighted images are seen especially in younger patients and those with severe phenotypes. Most FCMD patients are mentally retarded and the level is moderate to severe, with IQs ranging from 30 to 50. In our recent study, 62% of patients developed seizures. Among them, 71% had only febrile seizures, 6% had afebrile seizures from the onset, and 22% developed afebrile seizures following febrile seizures. Most patients had seizures that were controllable with just 1 type of antiepileptic drug, but 18% had intractable seizures that must be treated with 3 medications.
[Mh] Termos MeSH primário: Sistema Nervoso Central/patologia
Músculo Esquelético/fisiopatologia
Distrofias Musculares/patologia
Síndrome de Walker-Warburg/patologia
Síndrome de Walker-Warburg/fisiopatologia
[Mh] Termos MeSH secundário: Animais
Sistema Nervoso Central/fisiopatologia
Seres Humanos
Imagem por Ressonância Magnética/métodos
Distrofias Musculares/complicações
Distrofias Musculares/congênito
Distrofias Musculares/fisiopatologia
Mutação/genética
Síndrome de Walker-Warburg/diagnóstico
Síndrome de Walker-Warburg/genética
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1605
[Cu] Atualização por classe:160213
[Lr] Data última revisão:
160213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160214
[St] Status:MEDLINE
[do] DOI:10.11477/mf.1416200361



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