Binding of α-synuclein to ACO2 promotes progressive mitochondrial dysfunction in Parkinson's disease models.

The accumulation of α-synuclein (α-syn), a key protein in Parkinson's disease (PD), contributes to progressive neuronal damage associated with mitochondrial dysfunction and interactions with various proteins. However, the precise mechanism by which α-syn affects energy metabolism remains unclear. In our study, we used human α-syn (hα-syn) transgenic mice, which exhibit progressive neuronal decline.

ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes.

Parkinson's disease (PD) is characterized by α-synuclein aggregation in dopaminergic (DA) neurons, which are sensitive to oxidative stress. Mitochondria aconitase 2 (ACO2) is an essential enzyme in the tricarboxylic acid cycle that orchestrates mitochondrial and autophagic functions to energy metabolism. Though widely linked to diseases, its relation to PD has not been fully clarified.

Applications of Machine Learning to Diagnosis of Parkinson's Disease.

Background: Accurate diagnosis of Parkinson's disease (PD) is challenging due to its diverse manifestations. Machine learning (ML) algorithms can improve diagnostic precision, but their generalizability across medical centers in China is underexplored.

Objective: To assess the accuracy of an ML algorithm for PD diagnosis, trained and tested on data from different medical centers in China.

Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders.

Background: Epilepsy (EP) is a common neurological disease in which 70-80% are thought to have a genetic cause. In patients with epilepsy, neurodevelopmental delay (NDD) was prevalent. Next generation of sequencing has been widely used in diagnosing EP/NDD.

The synergistic hydration mechanism and environmental safety of multiple solid wastes in red mud-based cementitious materials.

Red mud (RM) is a solid waste material with high alkalinity and low cementing activity component. The low activity of RM makes it difficult to prepare high-performance cementitious materials from RM alone. Five groups of RM-based cementitious samples were prepared by adding steel slag (SS), grade 42.

Study on hydration mechanism and environmental safety of thermal activated red mud-based cementitious materials.

Red mud (RM) cementitious materials were prepared with the thermally, thermoalkali- or thermocalcium-activated RM, steel slag (SS), and other additives. The effects of different thermal RM activation methods on the cementitious material hydration mechanisms, mechanical properties, and environmental risks were discussed and analyzed. The results showed that the hydration products of different thermally activated RM samples were similar with the main products being C-S-H, tobermorite, and Ca(OH).

Heterozygous Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees.

Background And Objectives: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease caused by homozygous or compound heterozygous variations in the high-temperature requirement A serine peptidase 1 () gene. However, several studies in recent years have found that some heterozygous mutations also cause cerebral small vessel disease (CSVD). The current study aims to report the novel genotypes, phenotypes, and histopathologic results of 3 pedigrees of CSVD with heterozygous mutation.

Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.

Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS). Some mutations in TARDBP, e.

Development and Validation of a Predictive Nomogram for Possible REM Sleep Behavior Disorders.

Objectives: To develop and validate a predictive nomogram for idiopathic rapid eye movement (REM) sleep behavior disorder (RBD) in a community population in Beijing, China.

Methods: Based on the validated RBD questionnaire-Hong Kong (RBDQ-HK), we identified 78 individuals with possible RBD (pRBD) in 1,030 community residents from two communities in Beijing. The least absolute shrinkage and selection operator (LASSO) regression was applied to identify candidate features and develop the nomogram.

Converting the E. coli Isochorismatase Nicotinamidase into γ-Lactamase.

Nicotinamidase (Nic) (E.C.3.

Distinct lipid profiles of radiation-induced carotid plaques from atherosclerotic carotid plaques revealed by UPLC-QTOF-MS and DESI-MSI.

Background And Purpose: Radiotherapy is a standard treatment for head and neck tumors that significantly increases patients' long-term survival rates. However, late cerebrovascular complications, especially carotid artery stenosis (CAS), have gained increasing attention. Investigation of biomarkers of radiation-induced CAS may help to elucidate the mechanism by which radiation induces damage to blood vessels and identify possible preventive measures against such damage.

Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects.

Background: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with neuronal cell inclusions composed of neurofilaments and other abnormal aggregative proteins as pathological hallmarks. Approximately 90% of patients have sporadic cases (sALS), and at least 4 genes, i.e.

A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.

Background: Mutations in the F-box protein 7 (FBXO7) gene is one of the genetic causes of early-onset Parkinson's disease, which usually presents as autosomal recessive early-onset parkinsonian-pyramidal syndrome (PPS). Herein, we report a Chinese PPS family with a novel FBXO7 homozygous mutation.

Methods: Clinical data of the proband and his affected sister manifesting as early-onset parkinsonism combined with pyramidal signs were collected.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary disease characterized by cerebellar ataxia, pyramidal signs in lower limbs, and sensorimotor neuropathy. The disease is caused by bi-allelic mutations of the SACS gene encoding the sacsin protein. Over 200 mutations have been reported worldwide.

Ghrelin protects against rotenone-induced cytotoxicity: Involvement of mitophagy and the AMPK/SIRT1/PGC1α pathway.

Parkinson's disease (PD) is the second most common neurodegenerative disorder, characterized by the loss of dopaminergic neurons in the substantia nigra and the deposition of Lewy bodies. Mitochondrial dysfunction, oxidative stress, and autophagy dysfunction are involved in the pathogenesis of PD. Ghrelin is a brain-gut peptide that has been reported that protected against 1-methyl-4-phenyl-1,2,3,6- tetrahydropyran (MPTP)/MPP-induced toxic effects.

Apelin-36 Protects HT22 Cells Against Oxygen-Glucose Deprivation/Reperfusion-Induced Oxidative Stress and Mitochondrial Dysfunction by Promoting SIRT1-Mediated PINK1/Parkin-Dependent Mitophagy.

Oxidative stress and mitochondrial dysfunction are involved in cerebral ischemia/reperfusion injury-induced neuronal apoptosis. Mitophagy is the main method to eliminate dysfunctional mitochondria. Apelin-36, a type of neuropeptide, has been reported to exert protective effects in cerebral I/R (I/R) injury, but its precise mechanisms remain to be elucidated.

The Role of Mitophagy in Ischemic Stroke.

Mitochondria are important places for eukaryotes to carry out energy metabolism and participate in the processes of cell differentiation, cell information transmission, and cell apoptosis. Autophagy is a programmed intracellular degradation process. Mitophagy, as a selective autophagy, is an evolutionarily conserved cellular process to eliminate dysfunctional or redundant mitochondria, thereby fine-tuning the number of mitochondria and maintaining energy metabolism.

Regulatory effects of ghrelin on endoplasmic reticulum stress, oxidative stress, and autophagy: Therapeutic potential.

Ghrelin is a regulatory peptide that is the endogenous ligand of the growth hormone secretagogue 1a (GHS-R1a) which belongs to the G protein-coupled receptor family. Ghrelin and GHS-R1a are widely expressed in the central and peripheral tissues and play therapeutic potential roles in the cytoprotection of many internal organs. Endoplasmic reticulum stress (ERS), oxidative stress, and autophagy dysfunction, which are involved in various diseases.

Apelin-13 inhibits apoptosis and excessive autophagy in cerebral ischemia/reperfusion injury.

Apelin-13 is a novel endogenous ligand for an angiotensin-like orphan G-protein coupled receptor, and it may be neuroprotective against cerebral ischemia injury. However, the precise mechanisms of the effects of apelin-13 remain to be elucidated. To investigate the effects of apelin-13 on apoptosis and autophagy in models of cerebral ischemia/reperfusion injury, a rat model was established by middle cerebral artery occlusion.

Ghrelin mitigates MPP-induced cytotoxicity: Involvement of ERK1/2-mediated Nrf2/HO-1 and endoplasmic reticulum stress PERK signaling pathway.

Parkinson's disease (PD) is a common progressive and multifactorial neurodegenerative disease. Current pharmacological therapies for PD are inadequate and often accompanied by serious side effects. In search of neuroprotective agents being considered to be beneficial to PD therapy.

Ghrelin protects dopaminergic neurons against MPTP neurotoxicity through promoting autophagy and inhibiting endoplasmic reticulum mediated apoptosis.

Parkinson's disease (PD) is the second most common progressive neurodegenerative disorder, the important pathology of PD due to the prominent loss of the dopaminergic neurodegeneration in the substantia nigra pars compacta (SNpc) and striatum (STR). Although the etiology of PD is not fully understood, aggregation of α-synuclein, impaired autophagy, and endoplasmic reticulum stress (ERS) are involved in the pathogenesis of PD. Previously it has been demonstrated that Ghrelin is a kind of peptide protected dopaminergic neurons against 1-methyl-4-phenyl-1,2,3,6-tetrahydropyran (MPTP)-induced neurotoxicity, but the detailed mechanism remains to be elucidated.

Apelin-36 mediates neuroprotective effects by regulating oxidative stress, autophagy and apoptosis in MPTP-induced Parkinson's disease model mice.

Parkinson's disease (PD), a common human neurodegenerative disorder, is characterized by the presence of intraneuronal Lewy bodies composed principally of abnormal aggregated and post-translationally modified α-synuclein. In our previous research, we have demonstrated the neuroprotective effect of Apelin-36, a neuroendocrine peptide in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridin (MPTP)-lesioned PD model mice. Therefore, this study was designed to evaluate the neuroprotective mechanism of Apelin-36 against MPTP-induced neurotoxicity in mice.