The effect of NR4A1 on APP metabolism and tau phosphorylation.

Alzheimer's disease (AD) is characterized by senile plaques (SP) composed of β-amyloid protein (Aβ) and neurofibrillary tangles (NFTs) composed of intracellular hyperphosphorylated tau. Recently, nuclear receptor subfamily 4 group A member 1 (NR4A1) was implicated in synaptic plasticity, long-term memory formation, suggesting that it may play a role in the pathophysiology of AD. Here, we showed that the expression of NR4A1 was significantly increased in the hippocampus of APP/PS1 transgenic mice.

Chitinase-3-like protein 1 may be a potential biomarker in patients with drug-resistant epilepsy.

The mechanisms of the pathogenesis of epilepsy remain unclear. Recent research shows that the inflammatory process occurring in the brain may be a common and critical mechanism of seizures. Chitinase-3-like protein 1 (CHI3L1 or YKL-40) is a newly discovered inflammatory factor.

Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.

Objectives: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 mutations have been reported. In this study, we describe the clinical, pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) changes in four Chinese patients with NLSDM.

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.

Background: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS).

Methods: Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined, and next-generation sequencing followed by direct sequencing was carried out.

Increased osteopontin in muscle and serum from patients with idiopathic inflammatory myopathies.

Objectives: Osteopontin (OPN) is a non-traditional pro-inflammatory cytokine and is involved in muscle regeneration and inflammation. The aim of this study was to investigate the expression of OPN in skeletal muscle and serum of patients with IIMs.

Methods: 45 patients with IIMs (27 with PM and 18 with DM) were included in the study.

Increased levels of HSPA5 in the serum of patients with inflammatory myopathies--preliminary findings.

Endoplasmic reticulum (ER) stress is suggested to play an important role in the pathogenesis of myositis recently. The aim of this study was to investigate the serum concentration of an ER stress-specific chaperone protein HSPA5 in patients with inflammatory myopathies. Forty-five patients (27 with polymyositis (PM) and 18 with dermatomyositis (DM)) were included in the study, and all received prednisone therapy.

A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.

Gap junction protein beta 1 (GJB1) gene mutations lead to X-linked Charcot-Marie-Tooth (CMTX) disease. We investigated a Chinese family with CMTX and identified a novel GJB1 point mutation. Clinical and electrophysiological features of the pedigree were examined, and sequence alterations of the coding region of GJB1 that encode connexin32 were determined by direct sequencing.