Dataset Information

Correlation of the predisposition of Chinese children to cerebral palsy with nucleotide variation in pri-miR-124 that alters the non-canonical apoptosis pathway.

ABSTRACT: Cerebral palsy is a group of non-progressive motor impairment syndromes caused by brain lesions during development. Herein, we investigated the relationship between nucleotide variations in a miRNA coding region and the predisposition of Chinese children to cerebral palsy. A total of 233 CP patients and 256 healthy participants were enrolled, and 60 children were selected from each group for plasma miRNA detection. We screened the coding regions of pri-miR-124-1, -2, and -3 using PCR and sequencing. The expression of miR-124 was determined by qRT-PCR. Luciferase assays and Western blots were used to confirm the regulation of target genes by miR-124. The function of miR-124 was further identified in SH-SY5Y cells by detecting cell viability and apoptosis. We revealed that the rare alleles T of rs3802169 and G of rs191727850 were found to be associated with an increased risk of cerebral palsy (OR=3.71, 95% CI 1.74-7.92 and OR=2.18, 95% CI 1.36-3.49, respectively). We further showed that the levels of mature miR-124 were down-regulated by the C-to-T variation in vitro. More importantly, the reduction of miR-124 resulting from the C-to-T change led to the less-efficient inhibition of the target genes ITGB1, LAMC1 and BECN1, which may play important roles during the development of the nervous system. Meanwhile, the reduction in the expression of miR-124 was also related to the increased nuclear translocation of apoptosis-inducing factor (AIF) under oxidative stress, thereby inducing more cell apoptosis. Our results suggest that one functional polymorphism in pri-miR-124-1 might contribute to the genetic predisposition of Chinese children to cerebral palsy by disrupting the production of miR-124, which consequently interfered in the expression and function of the target genes of miR-124.

SUBMITTER: Li H

PROVIDER: S-EPMC6289373 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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Correlation of the predisposition of Chinese children to cerebral palsy with nucleotide variation in pri-miR-124 that alters the non-canonical apoptosis pathway.

Li Hui H Wang Xiu-Li XL Wu Yan-Qiu YQ Liu Xiu-Mei XM Li Ai-Min AM

Acta pharmacologica Sinica 20180517 9

Cerebral palsy is a group of non-progressive motor impairment syndromes caused by brain lesions during development. Herein, we investigated the relationship between nucleotide variations in a miRNA coding region and the predisposition of Chinese children to cerebral palsy. A total of 233 CP patients and 256 healthy participants were enrolled, and 60 children were selected from each group for plasma miRNA detection. We screened the coding regions of pri-miR-124-1, -2, and -3 using PCR and sequenc ...[more]

PMID: 29770797

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Project description:Children with Cerebral Palsy (CP) show the postural constraints while standing, and gait disorders, resulting from both primary and secondary impairments of brain injury. In our previous studies, several characteristic postural and gait patterns in children with unilateral as well as with bilateral CP were defined, and the relationship between these patterns was demonstrated. The purpose of present study was to identify which features of body posture deviation during standing were strongly related to gait deviations in independently ambulatory children with CP. For this aim we explored the cross-relationship between features of body posture while standing examined by surface topography and the selected gait parameters from three-dimensional instrumented gait analysis in one hundred twenty children with cerebral palsy, aged between 7 and 13 years, who were able to walk independently. First, our study documented that that sagittal misalignment of the spine curvature was significantly related to kinematic deviations such as deviations of pelvic tilt, inadequate swing phase and knee flexion, and peak dorsiflexion in stance. Second, the study shows that the static asymmetry of pelvis and trunk was significantly associated with kinematic deviations during gait cycle such as pelvic rotation, hip abduction in swing, ROM of knee flexion, peak dorsiflexion in stance. Based on obtained results and referring to our previous findings it can be assumed that the first model of the relationship between postural deviation and gait disturbances, called 'postural and gait complex of disorders in sagittal plane', is related to children with bilateral CP, whereas the second model 'postural and gait complex of disorders in coronal plane' to children with unilateral CP. The clinical applications of this study relate to the early recognition of particular features of postural deviation using surface topography, instead of more difficult and demanding expensive tools 3-D gait analysis.

Dataset Information

Correlation of the predisposition of Chinese children to cerebral palsy with nucleotide variation in pri-miR-124 that alters the non-canonical apoptosis pathway.

Publications

Correlation of the predisposition of Chinese children to cerebral palsy with nucleotide variation in pri-miR-124 that alters the non-canonical apoptosis pathway.

Similar Datasets

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