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J Mol Neurosci ; 69(2): 188-196, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31201655


Mutations of the CPT2 gene cause CPT2 deficiency and affect the ß-oxidation of fatty acids. This study examined the consequence of a polymorphism of rs1799822 in the CPT2 gene with respect to EV71 encephalitis in Chinese children. The study included 406 cases of both mild and severe EV71 infection diagnosed by RT-PCR, together with controls (n = 348). We used an improved multiplex ligation detection reaction technique to detect the polymorphism of rs1799822 in the CPT2 gene. The frequency of the (AG+GG) genotype and G allele in the EV71 infection group and in the severe EV71 encephalitis group was significantly lower than in the control group (p = 0.012 vs. p = 0.005, and p = 0.022 vs. p = 0.006, respectively). The frequency of the (AG+GG) genotype and G allele in the severe EV71 encephalitis group was markedly lower than in the mild EV71 encephalitis group (p = 0.045, p = 0.033). The ATP levels in the blood of the (AG+GG) genotype were distinctly higher than in the AA genotype in mild and severe EV71 encephalitis patients (P = 0.037, P = 0.040). A polymorphism of rs1799822 in the CPT2 gene is associated with the severity of EV71 encephalitis and may be one of the protection factors of severe EV71 encephalitis.

Int J Dev Neurosci ; 67: 51-54, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29604340


Pitt-Hopkins syndrome (PTHS), belonging to the group of 18q-syndromes, is a rare genetic disorder caused by mutations in TCF4. PTHS is characterized by distinctive facial appearance, intermittent hyperventilation, intellectual disability and developmental delay. Although patients with PTHS generally have various systemic symptoms, most of them with a TCF4 mutation manifest the central nervous system (CNS) disorders. We described the first Chinese case with Pitt-Hopkins syndrome based on clinical presentations and genetic findings. In addition to the typical features of PTHS, the girl also had paroxysms of tachypnea followed by cyanosis and recurrent seizures. Comprehensive medical examinations were performed including metabolic screening, hepatic and renal function evaluation, abdominal and cardiac ultrasounds. The presence of epileptic discharges in electroencephalography and abnormal brain magnetic resonance imaging were found. High-throughput sequencing was used to detect genetic mutations associated with CNS disorders. Sanger sequencing was used to confirm the mutations in the patient. The c.2182C>T (p.Arg728Ter) mutation was a de novo nonsense mutation at exon 18 in the TCF4 gene of the patient. In conclusion, we have identified a de novo nonsense mutation of TCF4 carried by a Chinese girl with PTHS. The patient underwent anti-epileptic therapy (sodium valproate, levetiracetam, clonazepam), resulting in a reduction of the seizures.

Hiperventilação/complicações , Hiperventilação/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Mutação/genética , Fator de Transcrição 4/genética , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Epilepsia/tratamento farmacológico , Epilepsia/etiologia , Facies , Saúde da Família , Feminino , Humanos , Hiperventilação/diagnóstico por imagem , Deficiência Intelectual/diagnóstico por imagem , Imagem por Ressonância Magnética
Pediatr Infect Dis J ; 33(10): 1077-82, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25361188


BACKGROUND: Mutations of the CPT II gene cause CPT II deficiency, an inborn metabolic error affecting mitochondrial fatty acid ß-oxidation. Associations and mechanisms of CPT II gene with acute encephalitis need to be elucidated. We aimed to investigate the associations of CPT II gene variants and CPT II activity with development of acute encephalitis. METHODS: A total of 440 blood-unrelated Chinese children with acute encephalitis and 229 healthy controls were enrolled in this case control study. Sequencing of 5 exons of the CPT II gene was carried out to look for the variants associated with acute encephalitis. CPT II activity and blood adenosine triphosphate concentration were examined during high fever and convalescent phase to confirm the hypothesis. RESULTS: Polymorphism of rs2229291 in CPT II gene was significantly associated with an increased risk of acute encephalitis (P = 0.031), where as rs1799821 displayed a decrease risk (P = 0.018). Positive association was found between rs2229291 and patients with fever at onset of seizure and degree of pathogenetic condition (P = 0.018 and P = 0.023), but not for rs1799821. CPT II activity of patients with rs2229291 reduced greatly during high fever compared with the convalescent phase. CONCLUSIONS: rs2229291 and rs1799821 variants in CPT II gene might be 1 of the predisposing factors of acute encephalitis.

Carnitina O-Palmitoiltransferase/genética , Carnitina O-Palmitoiltransferase/metabolismo , Encefalite/imunologia , Predisposição Genética para Doença , Trifosfato de Adenosina/sangue , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética , Humanos , Masculino , Polimorfismo Genético , Análise de Sequência de DNA
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi ; 30(11): 1166-9, 2014 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-25374081


OBJECTIVE: To prepare S100A10 protein and its specific polyclonal antibody. METHODS: The full-length gene fragment of S100A10 was amplified by PCR, and then cloned into pET28a(+) prokaryotic expression vector. After transformation, the vector was induced to express the recombinant (S100A10)(2) protein by IPTG in E.coli BL21 (DE3). The recombinant (S100A10)(2) was then purified by Ni-NTA resin. (S100A10)(2)-specific polyclonal antibody was prepared using the purified recombinant (S100A10)(2) protein as antigen to inoculate rabbit intradermally. The title and specificity of the polyclonal antibody were determined by ELISA and Western blotting. RESULTS: The study successfully constructed the prokaryotic recombinant expression vector pET28a(+)-(S100A10)(2), and obtained the purified recombinant (S100A10)(2) protein and polyclonal antibody with high titer and specificity. CONCLUSION: The prokaryotic expression and purification system for S100A10 has been established and polyclonal antibody of (S100A10)(2) been prepared, which provides helpful fools for further researches on S100A10.

Anexina A2/genética , Anticorpos/imunologia , Proteínas Recombinantes/biossíntese , Proteínas S100/genética , Animais , Anexina A2/imunologia , Anexina A2/isolamento & purificação , Anexina A2/fisiologia , Especificidade de Anticorpos , Plasmídeos , Coelhos , Proteínas S100/imunologia , Proteínas S100/isolamento & purificação