LncRNA SNHG1 alleviates OGD induced injury in BMEC via miR-338/HIF-1α axis.

Background: Brain microvascular endothelial cell (BMEC) is an important therapeutic target for the inhibition of brain vascular dysfunction in ischemic stroke. Expression of long non-coding RNA SNHG1 is reportedly upregulated in BMEC after OGD. The present study aims to investigate the potential roles of SNHG1 in OGD-induced injury in BMEC.

Screening for , and Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.

Background: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families.

Mutant presenilin2 promotes apoptosis through the p53/miR-34a axis in neuronal cells.

Neurodegenerative disorders have attracted attention in last decades due to their high incidence in the world. The p53/miR-34a axis triggers apoptosis and suppresses viability in multiple types of cells, but little is known about its role in neurodegenerative diseases. In this study, we showed that presenilin (PS)-2, a major gene associated with familial Alzheimer's disease (AD) could trigger the apoptosis through the p53/miR-34a axis in PC12 cells.

[Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].

Objective: To analyze the mutation of CX32 gene and related clinical features in Chinese Han patients with Charcot-Marie-Tooth (CMT) disease.

Methods: Thirty-four CMT families, from 2004 to 2011 at Departments of Neurology, Xiangya Hospital, Third Xiangya Hospital and National Key Laboratory of Medical Genetics, were selected for CX32 mutation screening after the exclusion of the PMP22 duplication and male-to-male transmission. Mutation analysis was carried out by polymerase chain reaction (PCR) plus direct sequencing.

[Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain].

Objective: To observe the cellular expression of (R127W) HSPB1 and its influence on neurofilament light chain (NFL) self-assembly and co-localization with NFL.

Methods: Eukaryotic expression vectors pEGFPN1-(wt) HSPB1 and pEGFPN1- (R127W) HSPB1 were constructed. Hela cells were transiently transfected with pEGFPN1-(wt) HSPB1 or pEGFPN1- (R127W) HSPB1 and observed under a confocal microscope.

[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].

The purpose of this study was to understand the mutation features of lipopolysaccharide-induced tumor necrosis factor-alpha factor (LITAF), ras-associated protein RAB7 (RAB7), lamin A/C (LMNA) and myotubularin-related protein 2 (MTMR2) genes in Chinese Charcot-Marie-Tooth disease (CMT) patients. Mutation analysis of LITAF gene was carried out using PCR combined with DNA sequencing, and mutation analysis of RAB7 gene by PCR-single strand conformation polymorphism (PCR-SSCP) combined with DNA sequencing in 33 CMT patients including 6 probands of autosomal domi-nated CMT families and 27 sporadic patients; mutation analysis of LMNA and MTMR2 genes was observed using PCR-SSCP combined with DNA sequencing in 41 CMT patients, including 14 probands of autosomal recessive CMT fami-lies and 27 sporadic patients. Two sequence variations c.

[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].

Objective: To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease (CMT) and to establish a quick and effective diagnostic method.

Methods: Through denaturing high-performance liquid chromatography (DHPLC) combined with DNA sequencing, MFN2 gene mutation analysis was carried out in 35 Chinese CMT2 patients including 9 probands of CMT2 pedigree and 26 sporadic CMT2 patients.

Results: The investigators found three abnormal sequence variations in MFN2 gene: c.

[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].

Objective: To study the possible mechanism of the intracellular aggregate formation of small heat shock protein HSPB8 (HSPB8)(K141N) mutation resulting in axonal Charcot-Marie-Tooth disease type 2L(CMT2L).

Methods: The cell models which transiently expressed pEGFPN1-HSPB8 and pEGFPN1-(K141N)HSPB8 were established. The immunofluorescent co-location study of EGFP-(K141N)HSPB8 and HSPB1, EGFP-(K141N)HSPB8 and neurofilament light chain (NEFL) was carried out in the SHSY5Y cell models.

[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L].

Objective: To clone the disease-causing genes possibly existing in 6.8 cM distance between microsatellite markers D12S1720 and D12S1611 in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L (CMT2L).

Methods: Ten positional and functional candidate genes were chosen among all known genes in this locus region by bioinformatics inqury.

[Effects of sodium aescinate on bcl-2 and caspase-3 expression and apoptosis after focal cerebral ischemia reperfusion injury in rats].

Objective: To determine the effects of sodiun aescinate on Bcl-2 and Caspase-3 protein expression and neuronal apoptosis after focal cerebral ischemia reperfusion injury in rats.

Methods: One hundred male Wistar rats were subjected to middle cerebral artery occlusion (MCAO) and reperfusion. The rats were divided randomly into 4 groups: sham-operated group and MCAO and reperfusion model groups which were randomly divided into control group, saline group, and sodium aescinate group.

[Combining exchange of cerebrospinal fluid with small dose of urokinase injection for subarachnoid hemorrhage].

Objective: To explore the curative effect of combining exchange of cerebrospinal fluid with small dose of urokinase injection for the treatment of subarachnoid hemorrhage (SAH).

Methods: One hundred thirty-four SAH patients diagnosed by CT or MRI and lumbar puncture were randomly divided into two groups: 68 patients in the treatment group were given exchange of cerebrospinal fluid and small dose of urokinase injection; 66 patients in the control group were treated with exchange of cerebrospinal fluid. The main complications, the neurological deficit scale and curative effect of the two groups were compared.

Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.

Objective: To investigate the Cx32 mutation features and the clinical manifestations of Chinese patients with Charcot-Marie-Tooth disease(CMT).

Methods: Twenty-four of 65 unrelated CMT patients were selected for Cx32 mutation screening after the exclusion of the CMT1A 1.5 Mb duplication and male-to-male transmission.

Modified Graeb criteria for predicting the post-hemorrhagic hydrocephalus in intraventricular hemorrhage.

Objective: To set up a new grading system of intraventricular hemorrhage (IVH) and determine the value of predicting the probability of post-hemorrhagic hydrocephalus (PHH) in IVH.

Methods: We first modified the Graeb criteria, then compared the value of prediction for PHH assessed by the Graeb criteria with the modified Graeb criteria. One hundred and thirty one IVH patients were divided into two groups: the upper group (n = 67) and the lower group (n = 64).

[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].

Objective: To study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.

Methods: Mutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.

Results: A compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred.