First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease
AbstractLysosomal acid lipase (LAL) is a necessary enzyme for the hydrolysis of both triglycerides (TGs) and cholesteryl esters (CEs) in the lysosome. Deficiency of this enzyme encoded by the lipase A (LIPA) gene leads to LAL deficiency (LAL-D). A severe disease subtype of LAL-D is known as Wolman disease (WD), present with diarrhea, hepatosplenomegaly, and adrenal calcification. Untreated patients do not survive more than a year. The aim of this study was to assess the clinical and molecular characterizations of WD patients in Egypt. A total of seven patients (from five unrelated Egyptian families) were screened by target...
Source: Journal of Molecular Neuroscience - July 20, 2023 Category: Neuroscience Source Type: research
Prediction of Normal Tissue Complication Probability (NTCP) After Radiation Therapy Using Imaging and Molecular Biomarkers and Multivariate Modelling
AbstractThe aim of this study was to design a predictive radiobiological model of normal brain tissue in low-grade glioma following radiotherapy based on imaging and molecular biomarkers. Fifteen patients with primary brain tumors prospectively participated in this study and underwent radiation therapy. Magnetic resonance imaging (MRI) was obtained from the patients, including T1- and T2-weighted imaging and diffusion tensor imaging (DTI), and a generalized equivalent dose (gEUD) was calculated. The radiobiological model of the normal tissue complication probability (NTCP) was performed using the variables gEUD; axial diff...
Source: Journal of Molecular Neuroscience - July 18, 2023 Category: Neuroscience Source Type: research
Prospects for Nerve Regeneration and Gene Therapy in the Treatment of Traumatic Brain Injury
AbstractTraumatic brain injury (TBI) is a prevalent neurological disorder and a leading cause of death and disability worldwide. The high mortality rates result in a tremendous burden on society and families in terms of public health and economic costs. Despite advances in biomedical research, treatment options for TBI still remain limited, and there is no effective therapy to restore the structure and function of the injured brain. Regrettably, due to the excessive heterogeneity of TBI and the lack of objective and reliable efficacy evaluation indicators, no proven therapeutic drugs or drugs with clear benefits on functio...
Source: Journal of Molecular Neuroscience - July 17, 2023 Category: Neuroscience Source Type: research
Downregulation of Microcephaly-Causing Genes as a Mechanism for ZIKV Teratogenesis: A Meta-analysis of RNA-Seq Studies
AbstractZika virus (ZIKV) is a neurotropic teratogen that causes congenital Zika syndrome (CZS), characterized by brain and eye anomalies. Impaired gene expression in neural cells after ZIKV infection has been demonstrated; however, there is a gap in the literature of studies comparing whether the differentially expressed genes in such cells are similar and how it can cause CZS. Therefore, the aim of this study was to compare the differential gene expression (DGE) after ZIKV infection in neural cells through a meta-analysis approach. Through the GEO database, studies that evaluated DGE in cells exposed to the Asian lineage...
Source: Journal of Molecular Neuroscience - July 10, 2023 Category: Neuroscience Source Type: research
New Evidence Suggests a Much Complex Classification for the Genetic Pattern of Inheritance in Primary Brain Calcification
AbstractPrimary familial brain calcification (PFBC), often called Fahr ’s disease, is a condition in which calcium phosphate accumulates in the brain, mainly in the basal ganglia, thalamus, and cerebellum, and without the association of any metabolic or infectious cause. Patients present a variety of neurological and psychiatric disorders, usually during adulthood. T he disease is caused by autosomal dominant pathogenic variants in genes such asSLC20A2,PDGFRB,PDGFB, andXPR1.MYORG andJAM2 are the other genes linked to homozygous patterns of inheritance. Here, we briefly discuss the recent cases reported by Ceylan et al. (...
Source: Journal of Molecular Neuroscience - July 7, 2023 Category: Neuroscience Source Type: research
Correction: Concurrent Assessment of Oxidative Stress and MT-ATP6 Gene Profiling to Facilitate Diagnosis of Autism Spectrum Disorder (ASD) in Tamil Nadu Population
(Source: Journal of Molecular Neuroscience)
Source: Journal of Molecular Neuroscience - July 4, 2023 Category: Neuroscience Source Type: research
Isoflurane Enhances Autophagy by Activating AMPK/ULK1, Inhibits NLRP3, and Reduces Cognitive Impairment After Cerebral Ischemia –Reperfusion Injury in Rats
AbstractCerebral ischemic stroke (CIS) has become the second leading cause of death worldwide, which is largely related to cerebral ischemia reperfusion injury (CIRI). Surgical intervention is a reliable treatment for CIS, which predictably causes cerebral reperfusion. Therefore, the choice of anesthetic drugs has important clinical significance. Isoflurane (ISO), one of the most used anesthetics, attenuates cognitive impairment and has brain protective effects. However, the role of isoflurane in regulating autophagy and its regulatory mechanism on inflammation in CIRI are still unclear. The middle cerebral artery occlusio...
Source: Journal of Molecular Neuroscience - June 30, 2023 Category: Neuroscience Source Type: research
Localization Pattern of Dispatched Homolog 2 (DISP2) in the Central and Enteric Nervous System
In this study, the Disp2 expression profile was assessed in human tissues from publicly available transcriptomic datasets. The DISP2 localization pattern was further characterized in the human and rat central nervous system (CNS), as well as within the colonic enteric nervous system (ENS) using dual-label immunohistochemistry. Colocalization of DISP2 with neuronal and glial markers was additionally analyzed in murine primary ENS culture. At transcriptomic level, DISP2 expression was predominant in neuronal cell types of the CNS and ENS. DISP2 immunoreactivity was mainly located within PGP9.5-positive neurons rather than in...
Source: Journal of Molecular Neuroscience - June 27, 2023 Category: Neuroscience Source Type: research
