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A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient.
Ann Clin Transl Neurol
December 2024
Department of Pediatrics, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, P. R. China.
Background: Variants in the GABRA2 gene, which encodes the α2 subunit of the γ-aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic encephalopathy (DEE) referred to as DEE78. Only eight patients have been reported globally. This study presents the clinical presentation and genetic analysis of a Chinese family with a child diagnosed with DEE78, due to a novel GABRA2 variant.
View Article and Find Full Text PDFGenomic factors associated with substance use disorder relapse: A critical review.
Addict Behav Rep
December 2024
College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.
Article Synopsis
- Genetic and epigenetic factors play a significant role in increasing the risk of relapse in substance use disorders (SUD), but a thorough investigation of these factors is still needed.
- The review examines various genetic polymorphisms and epigenetic changes (like histone modifications and DNA methylation patterns) linked to SUD relapse, focusing on specific genes like DRD2, GABRA2, and COMT.
- Findings suggest that factors such as CpG hypermethylation in certain genes are connected to severe alcohol use disorder and highlight the need for more research to understand these relationships and improve treatment strategies.
Sleep-improving effect and the potential mechanism of Morus alba L. on mice.
Fitoterapia
December 2024
School of Life Sciences, Zhengzhou University, Zhengzhou 450001, China; Food Laboratory of Zhongyuan, Zhengzhou University, Zhengzhou, 450001, Henan, China. Electronic address:
As insufficient sleep has become a widespread concern in modern society, potential sleep-improving effect of mulberry (Morus alba L.) leaf ethanol extract (MLE) and the related mechanism were investigated in the present study. According to the results, MLE could significantly shorten sleep latency by 33 %, extend sleep duration by 56 % and increase sleep ratio of mice through increasing 5-HT and GABA release in serum, hypothalamus and hippocampus.
View Article and Find Full Text PDFIntegration analysis of pituitary proteome and transcriptome reveals fertility-related biomarkers in mutant Small Tail Han sheep.
Front Endocrinol (Lausanne)
August 2024
State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.
The Booroola fecundity mutation (FecB) in Small Tail Han sheep has been shown to enhance ovulation rates and litter sizes by affecting the hypothalamic-pituitary-gonadal (HPG) axis. Despite the pituitary's role in reproductive regulation, its involvement in FecB-induced ovulation remains understudied. Our study aimed to fill this gap by analyzing pituitary tissues from FecB homozygous (BB) and wild-type (WW) ewes during luteal and follicular phases using tandem mass tag-based protein quantification and the DIABLO framework for proteomic and transcriptomic data integration.
View Article and Find Full Text PDFCharacterization of the zebrafish gabra1 germline loss of function allele confirms a function for Gabra1 in motility and nervous system development.
Differentiation
July 2024
Department of Biological Sciences, Border Biomedical Research Center, The University of Texas at El Paso, El Paso, TX, USA. Electronic address:
Mutation of the GABRA1 gene is associated with neurodevelopmental defects and epilepsy. GABRA1 encodes for the α1 subunit of the γ-aminobutyric acid type A receptor (GABAR), which regulates the fast inhibitory impulses of the nervous system. Multiple model systems have been developed to understand the function of GABRA1, but these models have produced complex and, at times, incongruent data.
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