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1.
Psychiatr Genet ; 31(4): 119-125, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34030174

RESUMO

Nuclear casein kinase and cyclin-dependent kinase substrate 1 (nucks1) are considered a potential susceptibility gene for certain neurological diseases, such as Parkinson's disease (PD). In our study, we genotyped three single nucleotide polymorphisms (SNPs) (rs4951261, rs823114 and rs951366) of the nucks1 gene in 774 schizophrenic patients and 819 healthy controls using the improved multiplex ligation detection reaction (imLDR) technique. Furthermore, we also studied the relationship between the above SNPs and the clinical psychiatric symptoms and neurocognitive function of the patients. Genotype distributions and allele frequencies of these SNPs showed no significant differences and were found between patients and healthy controls. However, in an analysis of the positive symptom score of rs823114 among male patients, we found that the score of the A/A genotype was lower than that of the G/A+G/G genotypes (P = 0.001, P(corr) = 0.003]. Additionally, we also found that among the female patients, G allele carriers with rs823114 had lower semantic fluency scores than subjects with the A/A genotype (P = 0.010, P(corr) = 0.030]. Our data show for the first time that rs823114 polymorphism of nucks1 may affect positive symptoms and neurocognitive function in patients with schizophrenia in parts of southern China.


Assuntos
Proteínas Nucleares , Fosfoproteínas , Esquizofrenia , Estudos de Casos e Controles , China , Feminino , Frequência do Gene/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Esquizofrenia/genética
2.
Curr Vasc Pharmacol ; 19(6): 587-600, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33563154

RESUMO

Aging has been considered to be the most important non-modifiable risk factor for stroke and death. Changes in circulation factors in the systemic environment, cellular senescence and artery hypertension during human ageing have been investigated. Exosomes are nanosize membrane vesicles that can regulate target cell functions via delivering their carried bioactive molecules (e.g. protein, mRNA, and microRNAs). In the central nervous system, exosomes and exosomal microRNAs play a critical role in regulating neurovascular function and are implicated in stroke initiation and progression. MicroRNAs are small non-coding RNAs that have been reported to play critical roles in various biological processes. Recently, evidence has shown that microRNAs are packaged into exosomes and can be secreted into the systemic and tissue environment. Circulating microRNAs participate in cellular senescence and contribute to age-associated stroke. Here, we provide an overview of current knowledge on exosomes and their carried microRNAs in the regulation of cellular and organismal ageing processes, demonstrating the potential role of exosomes and their carried microRNAs in age-associated stroke.


Assuntos
Envelhecimento , Exossomos , MicroRNAs , Acidente Vascular Cerebral , Envelhecimento/genética , Envelhecimento/fisiologia , Senescência Celular/genética , Senescência Celular/fisiologia , Exossomos/metabolismo , Humanos , MicroRNAs/metabolismo , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/fisiopatologia
3.
Neurosci Lett ; 728: 134931, 2020 05 29.
Artigo em Inglês | MEDLINE | ID: mdl-32224225

RESUMO

OBJECTIVE: To investigate the relationship between SAP97 genetic polymorphisms and sporadic Parkinson's disease (PD) in Han Chinese population with the expectation of offering genetic data for the early prevention and treatment of the disease. METHODS: In this study, we genotyped single-nucleotide polymorphisms (SNPs) (rs3915512 and rs9843659) in theSAP97 gene in 317 patients with PD and 317 healthy-matched controls in a Han Chinese population through the improved multiplex ligation detection reaction (imLDR) technique. Then, we analyzed the association of each SNP, alone or in combination, with risk or age of onset of PD. RESULTS: The SAP97 rs3915512 and rs9843659 polymorphisms were not associated with the risk of PD. However, the minor allele of the rs3915512 and rs9843659 were significantly more common in PD patients with an early age of onset. Additionally, significant differences in the distribution of the onset age of the PD among different genotypes of the rs9843659 polymorphism. The CA haplotype was significantly related to early onset PD. CONCLUSIONS: Our data are the first to suggest that the SAP97 SNPs rs3915512 and rs9843659 and the CA haplotype may be significantly associated with early onset PD in China.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Proteína 1 Homóloga a Discs-Large/genética , Predisposição Genética para Doença , Doença de Parkinson/genética , Idoso , Povo Asiático/genética , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade
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