Objective To explore the differentially expressed micro RNAs (miRNAs) in serum-derived extracellular vesicles (EVs) of patients with Parkinson's disease (PD) and healthy individuals.Methods Thirty-six patients with late-onset Parkinson's disease (LOPD,age of onset being more than 50 years),20 patients with early-onset Parkinson's disease (EOPD,age of onset being no more than 50 years),and 10 healthy individuals were collected in our hospital from January 2015 to December 2017.Serum of all subjects was collected and EVs were extracted.The miRNA chip and real-time quantitative (qRT)-PCR were used to analyze and verify the differentially expressed exosomal miRNAs between PD patients and healthy individuals;Cytoscape software was used to analyze the common target genes regulated by differentially expressed miRNAs,and String database was used to analyze the interaction and function of target genes.And qRT-PCR was further used to analyze the expression level and correlation of differentially expressed miRNAs and their target genes in patients with EOPD and LOPD,respectively.Results As compared with healthy individuals,LOPD patients had significantly up-regulated expression levels ofmiR-143-3p and miR-1180 in the serum derived EVs,and statistically down-regulated miR-451 and miR-500 levels (P＜0.05).The miR-143-3p expression level in EOPD patients was significantly higher than that in LOPD patients (t=3.888,P=0.018).The target genes B-cell lymphoma-2 (BCL2) and AKT1 were involved in regulating the cholinergic synapses and neurotrophin signaling pathways,and the BCL2 relative expression level in EOPD patients was significantly higher than that in LOPD patients and healthy controls (P＜0.05);and the relative expression levels of BCL2 and miR-143-3p were negatively correlated in the serum derived EVs of EOPD patients (r=-0.556,P=0.025).Conclusion The miR-143-3p and BCL2 expression levels are negatively correlated in the serum derived EVs of EOPD patients;changes of expression level may be related to plasticity of synaptic structure and apoptosis of nerve cells.

Objective:To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with intellectual disability.Methods:The proband with intellectual disability was diagnosed at Luohe Central Hospital in December 2019. Peripheral blood samples were collected from four family members. Whole exome sequencing (WES) was used to screen the pathological mutations. Then the PCR and Sanger sequencing were used to verify the selected mutations and combine the relevant database to analyze variation loci.Results:We infer that the ARX c.1162 A>G was co-segregated with the phenotype of the family based on the results of WES. The results of sanger sequencing and WES are consistent. The mother of the proband is the carrier of the mutation. There is no mutation frequency reported in the healthy population. The mutation of the ARX c.1162A>G is harmful inferred by a variety of bioinformatics software. Combined with the phenotypic analysis of OMIM database, we infer the phenotype caused by the mutation is consistent with the patients in the family.Conclusion:The mutation of the ARX c.1162 A>G may be the cause of the intellectual disability in the family affected. And the variant has not been reported in China.