Associations Between Levels of Peripheral NCAPH2 Promoter Methylation and Different Stages of Alzheimer's Disease: A Cross-Sectional Study.

Background: Several studies have examined NCAPH2 methylation in amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD), but little is known of NCAPH2 methylation in subjective cognitive decline (SCD).

Objective: To examine whether methylation of peripheral NCAPH2 are differentially changed at various phases of AD, and whether it could serve as a diagnostic biomarker for SCD.

Methods: A total of 40 AD patients, 52 aMCI patients, 148 SCD patients, and 193 cognitively normal controls (NCs) were recruited in the current case-control study.

Brain microglia activation and peripheral adaptive immunity in Parkinson's disease: a multimodal PET study.

Background: Abnormal activation of immune system is an important pathogenesis of Parkinson's disease, but the relationship between peripheral inflammation, central microglia activation and dopaminergic degeneration remains unclear.

Objectives: To evaluate the brain regional microglia activation and its relationship with clinical severity, dopaminergic presynaptic function, and peripheral inflammatory biomarkers related to adaptive immunity.

Methods: In this case-control study, we recruited 23 healthy participants and 24 participants with early-stage Parkinson's disease.

β-Amyloid in blood neuronal-derived extracellular vesicles is elevated in cognitively normal adults at risk of Alzheimer's disease and predicts cerebral amyloidosis.

Background: Blood biomarkers that can be used for preclinical Alzheimer's disease (AD) diagnosis would enable trial enrollment at a time when the disease is potentially reversible. Here, we investigated plasma neuronal-derived extracellular vesicle (nEV) cargo in patients along the Alzheimer's continuum, focusing on cognitively normal controls (NCs) with high brain β-amyloid (Aβ) loads (Aβ+).

Methods: The study was based on the Sino Longitudinal Study on Cognitive Decline project.

Blood Methylation Is Associated With Hippocampal Volume in Subjective Cognitive Decline With Apolipoprotein E ε4 Non-carriers.

This study assessed the methylation of peripheral in individuals with subjective cognitive decline (SCD), identified its correlation with the hippocampal volume, and explored whether the correlation is influenced by apolipoprotein E ε4 (APOE ε4) status. Cognitively normal controls (NCs, = 56), individuals with SCD ( = 81), and patients with objective cognitive impairment (OCI, = 51) were included from the Sino Longitudinal Study on Cognitive Decline (NCT03370744). All participants completed neuropsychological assessments, blood tests, and structural MRI.

Clinico-neuropathological features of isocitrate dehydrogenase 2 gene mutations in lower-grade gliomas.

Background: Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes are important for both the integrated diagnosis and the prognosis of diffuse gliomas. The p.R132H mutation of IDH1 is the most frequently observed IDH mutation, while IDH2 mutations were relatively rarely studied.

Primary familial brain calcifications linked with a novel SLC20A2 gene mutation in a Chinese family.

It has been recently reported that mutations in SLC20A2 gene are a major cause of primary familial brain calcifications, a rare neurodegenerative disorder characterized by symmetrical and bilateral intracranial calcification. We conducted a pedigree study by performing next Generation Sequencing in a Chinese family with three generations. Three members in this family developed Parkinsonism in their sixth decade, also, the proband presented with schizophrenia for 40 years.

Calpastatin gene (CAST) is not associated with late onset sporadic Parkinson's disease in the Han Chinese population.

Recent studies point to an association between the late-onset sporadic Parkinson's disease (PD) and single nucleotide polymorphisms (SNPs) rs1559085 and rs27852 in Ca(2+)-dependent protease calpain inhibitor calpastatin (CAST) gene. This finding is of interest since loss of CAST activity could result in over activated calpain, potentially leading to Ca(2+) dysregulation and loss of substantia nigra neurons in PD. We explored the association between CAST SNPs and late-onset sporadic PD in the Han Chinese population.

[Expression profile of clock genes during the process of embryonic stem cells differentiation].

Objective: To analysis the expression profile of7 clock genes during mouse embryonic stem cell (mES) differentiation.

Methods: Mouse ES cells of the line 129 were cultured and induced to differentiate into neurons by 5 stages method. The expression of 7 clock genes: BMAL1, CLOCK, CRY1, CRY2, PER1, PER2, and PER3 in the five stages were determined by RT-PCR.

[Study of loss of heterozygosity in oligodendroglial tumors by real-time quantitative polymerase chain reaction-based microsatellite analysis].

Objective: To study the loss of heterozygosity (LOH) at chromosomes 1p or 19q in oligodendroglial tumors.

Methods: Twenty-eight cases of oligodendroglial tumors were enrolled into the study. Real-time quantitative polymerase chain reaction-based microsatellite analysis was performed on paraffin-embedded tumor tissues in order to study the status of chromosomes 1p and 19q.

LRH-1/hB1F and HNF1 synergistically up-regulate hepatitis B virus gene transcription and DNA replication.

Enhancer II (ENII) is one of the critical cis-elements in the Hepatitis B Virus (HBV) genome for the hepatic viral gene transcription and DNA replication. The liver-specific activity of ENII is regulated by multiple liver-enriched transcription factors, including LRH-1/hB1F, HNF1, HNF3b, HNF4 and C/EBP. Knowledge on the interplay of these important factors is still limited.

Fusion Expression and Antibody Preparation of the Human Transcription Factor hB1F.

Human B1F was cloned from a human liver cDNA library by yeast one-hybrid screening and characterized. It is a transcription factor which belongs to nuclear receptor superfamily. The cDNA segment 450-930 of human liver transcription factor hB1F was cloned into the pGEX-3X expression vector and was expressed in E.