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  1 / 1957 MEDLINE  
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[PMID]:28506337
[Au] Autor:Cao DZ
[Ad] Endereço:Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518038, China.
[Ti] Título:[Mitochondrial diseases and epilepsy].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(5):502-504, 2017 May.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Mh] Termos MeSH primário: Epilepsia/etiologia
Doenças Mitocondriais/complicações
[Mh] Termos MeSH secundário: Esclerose Cerebral Difusa de Schilder/diagnóstico
Esclerose Cerebral Difusa de Schilder/terapia
Epilepsia/terapia
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170517
[St] Status:MEDLINE


  2 / 1957 MEDLINE  
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[PMID]:28506336
[Au] Autor:Zhang YF; Wang JT; Gao JB; Lyu YY; Liang JM; Jia FY; Chen YB; Hao YP
[Ad] Endereço:Department of Pediatric Neurology, First Hospital of Jilin University, Changchun 130021, China.
[Ti] Título:[Alpers-Huttenlocher syndrome caused by a novel compound heterozygous mutation of POLG gene: a case report].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(5):498-501, 2017 May.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Mh] Termos MeSH primário: DNA Polimerase Dirigida por DNA/genética
Esclerose Cerebral Difusa de Schilder/genética
Mutação
[Mh] Termos MeSH secundário: DNA Polimerase gama
Esclerose Cerebral Difusa de Schilder/diagnóstico
Esclerose Cerebral Difusa de Schilder/tratamento farmacológico
Esclerose Cerebral Difusa de Schilder/etiologia
Heterozigoto
Seres Humanos
Lactente
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.7.7 (DNA Polymerase gamma); EC 2.7.7.7 (DNA-Directed DNA Polymerase); EC 2.7.7.7 (POLG protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170517
[St] Status:MEDLINE


  3 / 1957 MEDLINE  
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[PMID]:28419689
[Au] Autor:Kartvelishvili E; Tworowski D; Vernon H; Moor N; Wang J; Wong LJ; Chrzanowska-Lightowlers Z; Safro M
[Ad] Endereço:Department of Structural Biology, Weizmann Institute of Science, Israel.
[Ti] Título:Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2.
[So] Source:Protein Sci;26(8):1505-1516, 2017 Aug.
[Is] ISSN:1469-896X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in the mitochondrial aminoacyl-tRNA synthetases (mtaaRSs) can cause profound clinical presentations, and have manifested as diseases with very selective tissue specificity. To date most of the mtaaRS mutations could be phenotypically recognized, such that clinicians could identify the affected mtaaRS from the symptoms alone. Among the recently reported pathogenic variants are point mutations in FARS2 gene, encoding the human mitochondrial PheRS. Patient symptoms range from spastic paraplegia to fatal infantile Alpers encephalopathy. How clinical manifestations of these mutations relate to the changes in three-dimensional structures and kinetic characteristics remains unclear, although impaired aminoacylation has been proposed as possible etiology of diseases. Here, we report four crystal structures of HsmtPheRS mutants, and extensive MD simulations for wild-type and nine mutants to reveal the structural changes on dynamic trajectories of HsmtPheRS. Using steady-state kinetic measurements of phenylalanine activation and tRNA aminoacylation, we gained insight into the structural and kinetic effects of mitochondrial disease-related mutations in FARS2 gene.
[Mh] Termos MeSH primário: Esclerose Cerebral Difusa de Schilder/genética
Proteínas Mitocondriais/química
Mutação
Paraplegia/genética
Fenilalanina-tRNA Ligase/química
RNA de Transferência de Fenilalanina/química
[Mh] Termos MeSH secundário: Adolescente
Motivos de Aminoácidos
Aminoacilação
Sítios de Ligação
Pré-Escolar
Cristalografia por Raios X
Esclerose Cerebral Difusa de Schilder/diagnóstico
Esclerose Cerebral Difusa de Schilder/metabolismo
Esclerose Cerebral Difusa de Schilder/patologia
Feminino
Seres Humanos
Cinética
Masculino
Mitocôndrias/genética
Mitocôndrias/metabolismo
Mitocôndrias/patologia
Proteínas Mitocondriais/genética
Proteínas Mitocondriais/metabolismo
Simulação de Dinâmica Molecular
Paraplegia/diagnóstico
Paraplegia/metabolismo
Paraplegia/patologia
Fenilalanina-tRNA Ligase/genética
Fenilalanina-tRNA Ligase/metabolismo
Ligação Proteica
Conformação Proteica em alfa-Hélice
Conformação Proteica em Folha beta
Domínios e Motivos de Interação entre Proteínas
RNA de Transferência de Fenilalanina/metabolismo
Alinhamento de Sequência
Especificidade por Substrato
Termodinâmica
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mitochondrial Proteins); 0 (RNA, Transfer, Phe); EC 6.1.1.20 (FARS2 protein, human); EC 6.1.1.20 (Phenylalanine-tRNA Ligase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170419
[St] Status:MEDLINE
[do] DOI:10.1002/pro.3176


  4 / 1957 MEDLINE  
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[PMID]:25976947
[Au] Autor:Aracil-Bolaños I; Prats-Sánchez L; Gómez-Ansón B; Querol-Gutiérrez L; Núñez-Marín F; Martí-Fàbregas J
[Ad] Endereço:Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, España. Electronic address: iaracil@santpau.cat.
[Ti] Título:Balo concentric sclerosis: A presentation mimicking ischaemic stroke.
[Ti] Título:Esclerosis concéntrica de Balo: una presentación que simula un ictus isquémico..
[So] Source:Neurologia;32(1):60-61, 2017 Jan - Feb.
[Is] ISSN:1578-1968
[Cp] País de publicação:Spain
[La] Idioma:eng; spa
[Mh] Termos MeSH primário: Diagnóstico Diferencial
Esclerose Cerebral Difusa de Schilder/diagnóstico
Acidente Vascular Cerebral/diagnóstico
[Mh] Termos MeSH secundário: Anti-Inflamatórios/uso terapêutico
Encéfalo
Seres Humanos
Imagem por Ressonância Magnética
Metilprednisolona/uso terapêutico
Paresia/etiologia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents); X4W7ZR7023 (Methylprednisolone)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150516
[St] Status:MEDLINE


  5 / 1957 MEDLINE  
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[PMID]:27733565
[Au] Autor:Takai Y; Misu T; Nishiyama S; Ono H; Kuroda H; Nakashima I; Saito R; Kanamori M; Sonoda Y; Kumabe T; Mugikura S; Watanabe M; Aoki M; Fujihara K
[Ad] Endereço:From the Departments of Neurology (Y.T., T.M., S.N., H.O., H.K., I.N., M.A., K.F.), Multiple Sclerosis Therapeutics (T.M., K.F.), Neurosurgery (R.S., M.K.), Diagnostic Radiology (S.M.), and Pathology (M.W.), Tohoku University Graduate School of Medicine, Sendai; Department of Neurology (T.M.), Natio
[Ti] Título:Hypoxia-like tissue injury and glial response contribute to Balo concentric lesion development.
[So] Source:Neurology;87(19):2000-2005, 2016 Nov 08.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To clarify the pathogenic factors and mechanisms underlying the development of concentric demyelinating lesions in Balo disease. METHODS: We conducted serial clinical, MRI, and histopathologic assessments of concentric lesion formation in a case of relapsing Balo disease. RESULTS: The patient experienced 2 attacks caused by left parietal and left frontal lesions in 5 years. In MRI findings from both episodes of expanding lesions, there were diffusion-restricted rings that antedated the appearance of gadolinium enhancement; subsequently, typical concentric T2 lesions appeared concurrently with the disappearance of this enhancement. Histopathologic examinations of biopsied brain tissues revealed definite concentric demyelinating layers typical of Balo disease with massive macrophage infiltration but preserved axons. Numerous hypertrophic astrocytes were observed beyond the edges of and within the demyelinating layers. The expression of hypoxia-inducible factor-1α, a protein related to hypoxia-induced tissue preconditioning that contributes to survival and protection against further hypoxia-like injury, was upregulated primarily in glial cells located beyond the edge of the demyelinating layers but was also elevated in hypertrophic astrocytes on the inner sides of resected lesions and in oligodendrocytes in nondemyelinating layers. In addition, these astrocytes expressed CC motif chemokine 2 and/or interleukin-1ß, which are inducible by hypoxia-inducible factor-1α and potentially promote demyelination. CONCLUSIONS: Our study suggests that a unique interplay between hypoxia-induced tissue preconditioning and proinflammatory cytokines derived from glial cells may contribute to the development of concentric demyelinating lesions in Balo disease.
[Mh] Termos MeSH primário: Esclerose Cerebral Difusa de Schilder/complicações
Esclerose Cerebral Difusa de Schilder/patologia
Bainha de Mielina/metabolismo
Neuroglia/metabolismo
[Mh] Termos MeSH secundário: Citocinas/metabolismo
Esclerose Cerebral Difusa de Schilder/diagnóstico por imagem
Imagem de Difusão por Ressonância Magnética
Proteína Glial Fibrilar Ácida/metabolismo
Seres Humanos
Subunidade alfa do Fator 1 Induzível por Hipóxia
Masculino
Meia-Idade
Proteína Básica da Mielina/metabolismo
Bainha de Mielina/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cytokines); 0 (Glial Fibrillary Acidic Protein); 0 (HIF1A protein, human); 0 (Hypoxia-Inducible Factor 1, alpha Subunit); 0 (Myelin Basic Protein)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161014
[St] Status:MEDLINE


  6 / 1957 MEDLINE  
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[PMID]:27618766
[Au] Autor:Lamperti C; Zeviani M
[Ad] Endereço:Unit of Molecular Neurogenetics, The Carlo Besta Institute of Neurology, Milan, Italy.
[Ti] Título:Myoclonus epilepsy in mitochondrial disorders.
[So] Source:Epileptic Disord;18(S2):94-102, 2016 Sep 01.
[Is] ISSN:1950-6945
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:Mitochondrial disorders is a group of clinical entities associated with abnormalities of the mitochondrial respiratory chain (MRC), which carries out the oxidative phosphorylation (OXPHOS) of ADP into ATP. As the MRC is the result of genetic complementation between two separate genomes, nuclear and mitochondrial, OXPHOS failure can derive from mutations in either nuclear-encoded, or mitochondrial-encoded, genes. Epilepsy is a relatively common feature of mitochondrial disease, especially in early-onset encephalopathies of infants and children. However, the two most common entities associated with epilepsy include MERRF, for Myoclonic Epilepsy with Ragged Red Fibers, and AHS, or Alpers-Huttenlocher syndrome, also known as hepatopathic poliodystrophy. Whilst MERRF is a maternally inherited condition caused by mtDNA mutations, particularly the 8344A>G substitution in the gene encoding mt-tRNA , AHS is typically caused by recessive mutations in POLG, encoding the catalytic subunit of polymerase gamma, the only mtDNA polymerase in humans. AHS is the most severe, early-onset, invariably fatal syndrome within a disease spectrum, which also include other epileptogenic entities, all due to POLG mutations and including Spino-cerebellar Ataxia and Epilepsy (SCAE). This review reports the main clinical, neuroimaging, biochemical, and molecular features of epilepsy-related mitochondrial syndrome, particularly MERRF and AHS.
[Mh] Termos MeSH primário: Esclerose Cerebral Difusa de Schilder/genética
Esclerose Cerebral Difusa de Schilder/fisiopatologia
Síndrome MERRF/genética
Síndrome MERRF/fisiopatologia
[Mh] Termos MeSH secundário: Esclerose Cerebral Difusa de Schilder/terapia
Seres Humanos
Síndrome MERRF/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160914
[St] Status:MEDLINE


  7 / 1957 MEDLINE  
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[PMID]:27257741
[Au] Autor:Morrissey M; Ciorciari AJ; Cunningham SJ
[Ad] Endereço:From the Jacobi Medical Center, Bronx, NY.
[Ti] Título:A 17-Year-Old Girl With Acute Onset of Hemiparesis.
[So] Source:Pediatr Emerg Care;32(6):388-9, 2016 Jun.
[Is] ISSN:1535-1815
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The presentation of acute-onset hemiparesis in a teenager can be challenging and offers a wide differential diagnosis. We discuss the approach to the patient (which should begin with thorough history taking and physical examination) and advanced imaging as directed by the patient's signs and symptoms. We report the case of an otherwise well 17-year-old girl who presented to the pediatric emergency department with a 2-day history of left-sided weakness and difficulty ambulating. Her eventual diagnosis of Balo concentric sclerosis, a rare form of multiple sclerosis, is discussed.
[Mh] Termos MeSH primário: Esclerose Cerebral Difusa de Schilder/complicações
Esclerose Cerebral Difusa de Schilder/diagnóstico
Paresia/diagnóstico
Paresia/etiologia
[Mh] Termos MeSH secundário: Doença Aguda
Adolescente
Diagnóstico Diferencial
Esclerose Cerebral Difusa de Schilder/reabilitação
Feminino
Seres Humanos
Paresia/reabilitação
[Pt] Tipo de publicação:CASE REPORTS; 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:160604
[St] Status:MEDLINE
[do] DOI:10.1097/PEC.0000000000000434


  8 / 1957 MEDLINE  
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[PMID]:27142145
[Au] Autor:Barz H; Barz U; Schreiber A
[Ad] Endereço:Holunderweg 17, D-18209 Bad Doberan, Germany; Neuropathology Department, Dietrich-Bonhoeffer Hospital, D-17022 Neubrandenburg, PF 400135 Mecklenburg-West Pomerania, Germany.
[Ti] Título:Morphogenesis of the demyelinating lesions in Baló's concentric sclerosis.
[So] Source:Med Hypotheses;91:56-61, 2016 Jun.
[Is] ISSN:1532-2777
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In tissues with elastic properties, an edema causes a raised tissue pressure and therefore a diminished blood flow. The authors assume that an increased tissue pressure due to local and/or relapsing edema may be the cause for incomplete necrosis (e.g. demyelinated lesions) or seldom complete necrosis in the brain. Newly forming demyelinating lesions seldom show small tissue bands with normal appearing myelin sheaths in the immediate vicinity of precursor lesions (Baló type of MS). The small myelinated bands are the result of a "protected zone" on the edge of previous demyelinated lesions. The authors explain this protected zone with two arguments. Firstly, the resorptive granulation tissue of more or less older lesions is relatively rich in capillaries. These capillaries may act as an energy reservoir that can nourish not only the plaque, but also a narrow adjacent myelinated tissue band by diffusion, even if the capillary blood flow in this tissue band is limited due to the greater tissue pressure of a new developing lesion in the neighborhood. Secondly, another protective mechanism may act simultaneously: older or more sclerosed lesions and small adherent bands of myelinated tissue with them may swell less in cases of an edema than in normal tissue. The hardening of the older lesions is caused by proliferated fiber-forming astrocytes in the sense of scarring. In an area with an increased tissue pressure, the capillaries are less compressed in a sclerosed lesion than in regions of normal grey and white matter. In addition, the adherent myelinated tissue band closest to the edge of a hardened plaque is better protected against swelling and compression than the further away tissue. Theoretically, this protection zone is comparable with protected blood vessels in the Haversian canals or the medullary spaces of bones. Both theses of protecting mechanisms at the edges of demyelinated lesions support the assumption of a hypoxic causation principle of demyelinating lesions in Baló's concentric sclerosis and multiple sclerosis.
[Mh] Termos MeSH primário: Doenças Desmielinizantes
Esclerose Cerebral Difusa de Schilder/fisiopatologia
[Mh] Termos MeSH secundário: Astrócitos/citologia
Velocidade do Fluxo Sanguíneo
Encéfalo/patologia
Capilares/metabolismo
Proliferação Celular
Circulação Cerebrovascular
Difusão
Edema/patologia
Elasticidade
Substância Cinzenta/patologia
Seres Humanos
Hipóxia
Microcirculação
Artéria Cerebral Média/patologia
Morfogênese
Esclerose Múltipla/fisiopatologia
Bainha de Mielina/química
Necrose
Recidiva
Substância Branca/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170815
[Lr] Data última revisão:
170815
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160505
[St] Status:MEDLINE


  9 / 1957 MEDLINE  
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[PMID]:27027826
[Au] Autor:Nader Kawachi JA; Andrade Magdaleno Mde L; Peñaherrera CA; Fernández De Lara Y; Lavenant Borja MI
[Ad] Endereço:Departamento de Neurología, Fundación Clínica Médica Sur, México. Address: Etapa La Brisa, Manzana 5, Villa 15, Ciudad Celeste, Samborondón, Ecuador. Email: ca_penaherrera@hotmail.com.
[Ti] Título:Early diagnosis of Balo's concentric sclerosis by diffusion tensor tractography: a case report and literature review.
[So] Source:Medwave;16(2):e6402, 2016 Mar 14.
[Is] ISSN:0717-6384
[Cp] País de publicação:Chile
[La] Idioma:eng; spa
[Ab] Resumo:Balo concentric sclerosis is an infrequent variant of a demyelinating disease related to multiple sclerosis, initially thought to have an acute presentation and a fatal outcome. Recent studies have reported non-fatal forms of Balo concentric sclerosis, focusing on the importance of early diagnosis using magnetic resonance imaging (MRI), along with spectroscopy and diffusion/perfusion sequences. Recently, we have been able to draw a three-dimensional image of a specific bundle of fibers by means of a diffusion tensor technique of the magnetic resonance imaging tractography (t-MRI). We report the case of a young woman presenting with acute and progressive focal neurological symptoms, including right body paresis, whose diagnosis was suggested by MRI and confirmed by pathology to be Balo concentric sclerosis. She was treated with boluses of methylprednisolone, achieving full neurological remission one year after admission. This is, to our knowledge, the first report describing the use of t-MRI for diagnosing BCS. We consider that t-MRI will allow, in a near future, early diagnosis of the disease, its prompt treatment, and establishing new classification criteria. This case confirms the existence of benign forms of Balo concentric sclerosis with a good response to steroid therapy, where functional recovery is possible.
[Mh] Termos MeSH primário: Esclerose Cerebral Difusa de Schilder/diagnóstico
Imagem de Tensor de Difusão/métodos
Metilprednisolona/uso terapêutico
[Mh] Termos MeSH secundário: Adulto
Esclerose Cerebral Difusa de Schilder/tratamento farmacológico
Feminino
Glucocorticoides/uso terapêutico
Seres Humanos
Imagem Tridimensional
Indução de Remissão
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Glucocorticoids); X4W7ZR7023 (Methylprednisolone)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170117
[Lr] Data última revisão:
170117
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160331
[St] Status:MEDLINE
[do] DOI:10.5867/medwave.2016.02.6402


  10 / 1957 MEDLINE  
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[PMID]:26735972
[Au] Autor:Rajakulendran S; Pitceathly RD; Taanman JW; Costello H; Sweeney MG; Woodward CE; Jaunmuktane Z; Holton JL; Jacques TS; Harding BN; Fratter C; Hanna MG; Rahman S
[Ad] Endereço:UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery and the MRC Centre for Neuromuscular Diseases, Queen Square, London WC1N 3BG, United Kingdom.
[Ti] Título:A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
[So] Source:PLoS One;11(1):e0145500, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological and mitochondrial genetic features of four unrelated patients with homozygous A467T mutations. One patient presented with the severe and lethal Alpers-Huttenlocher syndrome, which was confirmed on neuropathology, and was found to have a depletion of mitochondrial DNA (mtDNA). Of the remaining three patients, one presented with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), one with a phenotype in the Myoclonic Epilepsy, Myopathy and Sensory Ataxia (MEMSA) spectrum and one with Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO). All three had secondary accumulation of multiple mtDNA deletions. Complete sequence analysis of muscle mtDNA using the MitoChip resequencing chip in all four cases demonstrated significant variation in mtDNA, including a pathogenic MT-ND5 mutation in one patient. These data highlight the variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation, which may result from factors such as the mtDNA genetic background, nuclear genetic modifiers and environmental stressors.
[Mh] Termos MeSH primário: DNA Polimerase Dirigida por DNA/genética
Doenças Mitocondriais/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Encéfalo/patologia
Pré-Escolar
DNA Polimerase gama
DNA Mitocondrial/química
DNA Mitocondrial/genética
Esclerose Cerebral Difusa de Schilder/genética
Esclerose Cerebral Difusa de Schilder/patologia
Feminino
Genótipo
Homozigoto
Seres Humanos
Fígado/patologia
Masculino
Doenças Mitocondriais/patologia
Miopatias Mitocondriais/genética
Miopatias Mitocondriais/patologia
Músculo Esquelético/patologia
Fenótipo
Polimorfismo de Nucleotídeo Único
Reação em Cadeia da Polimerase em Tempo Real
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial); EC 2.7.7.7 (DNA Polymerase gamma); EC 2.7.7.7 (DNA-Directed DNA Polymerase); EC 2.7.7.7 (POLG protein, human)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160107
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0145500



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