Aim: This study investigated the role of RAP1B in hepatic lipid metabolism and its implications in obesity and associated metabolic disorders, focusing on the molecular mechanisms through which RAP1B influences lipid accumulation, inflammation and oxidative stress in liver tissues and hepatocyte cell lines.
Materials And Methods: Liver-specific RAP1B-knockout (LKO) and overexpression (OE) mice were generated and fed a high-fat diet for 18 weeks to evaluate systemic and hepatic metabolic changes. Comprehensive metabolic phenotyping included measurements of body weight, body fat content, activity levels, energy expenditure (EE), respiratory exchange ratio (RER), glucose tolerance test and insulin tolerance test.
Background: Variants in have been reported to be associated with Leigh syndrome. However, further expansion of the -phenotype and variants spectrum of -related Leigh syndrome are still required.
Methods: Two patients diagnosed with Leigh syndrome were recruited, and whole-exome sequencing was performed to identify the genetic variants responsible for the abnormal gait, dystonia, and bilateral basal ganglia lesions, followed by validation using Sanger sequencing.
Background: GTPBP3 catalyzes τm(s) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τmU leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain.
Methods: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified.
BMC Musculoskelet Disord
December 2024
Background: Musculoskeletal health among the elderly emerges as a pivotal public health concern against the backdrop of a globally aging population. Creatine, popular within fitness circles, has emerged as a subject of scientific inquiry for its potential benefits on elderly' musculoskeletal well-being. Despite extensive documentation of its effects on athletic performance, investigations into creatine's long-term contributions to the musculoskeletal health of the elderly are comparatively limited.
View Article and Find Full Text PDFIntroduction: rearrangement () is a common genomic alteration in acute leukemia that can be effectively targeted by menin inhibitors. While FISH is the standard laboratory test for , false positives can occur.
Case Report: We present a case of AML in which both and were identified by karyotype analysis and FISH.
The widespread adoption of mobile phones in daily life has raised concerns regarding their impact on mental health, including among postpartum women. Considering the rising prevalence of postpartum depression (PPD) and the pervasive use of mobile phones in modern society, this study aimed to rigorously investigate the causal relationship between mobile phone use duration and the risk of developing PPD. Data were collected through an online survey assessing mobile phone usage and mental health among postpartum women.
View Article and Find Full Text PDFMol Genet Genomics
October 2024
The MELAS/Leigh overlap syndrome manifests with a blend of clinical and radiographic traits from both MELAS and LS. However, the association of MELAS/Leigh overlap syndrome with MT-CO1 gene variants has not been previously reported. In this study, we report a patient diagnosed with MELAS/Leigh overlap syndrome harboring the m.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
June 2024
Background: Postpartum depression is a complex mental health condition that often occurs after childbirth and is characterized by persistent sadness, anxiety, and fatigue. Recent research suggests a metabolic component to the disorder. This study aims to investigate the causal relationship between blood metabolites and postpartum depression using mendelian randomization (MR).
View Article and Find Full Text PDFBackground: Creatine supplementation is ubiquitously consumed by fitness enthusiasts due to its perceived advantages in enhancing athletic performance. Although there is an increasing concern within this demographic regarding its possible impact on renal function, there is still a lack of rigorous scientific investigations into this alleged association.
Methods: Data were collected through an online survey on the participants' demographics, creatine usage and concerns related to renal function.
The synuclein family, consisting of α-, β-, and γ-synuclein, is primarily expressed in neurons. Mutations of α- and β-synuclein have been linked to Parkinson's disease and dementia with Lewy bodies, respectively. Recent studies have shown that synucleins are upregulated in various tumors, including breast, ovarian, meningioma, and melanoma, and high synuclein expression is associated with poor prognosis and drug resistance.
View Article and Find Full Text PDFPancreatic adenocarcinoma (PAAD) is one of the most common malignant tumors with poor prognosis worldwide. Mounting evidence suggests that the expression of lncRNAs and the infiltration of immune cells have prognostic value for patients with PAAD. We used Gene Expression Omnibus (GEO) database and identified six genes (COL1A2, ITGA2, ITGB6, LAMA3, LAMB3, and LAMC2) that could affect the survival rate of pancreatic adenocarcinoma patients.
View Article and Find Full Text PDFGenes Chromosomes Cancer
August 2022
FUS::ERG rearrangement is a recurrent abnormality seen in a subgroup of acute myeloid leukemia (AML) with a poor prognosis. We described here a novel HNRNPH1::ERG rearrangement in a de novo AML. The patient was unresponsive to routine chemotherapy and succumbed to the disease just 3 months after diagnosis.
View Article and Find Full Text PDFMitochondrial DNA (mtDNA) mutations have been identified in various human cancers, including thyroid cancer. However, the relationship between mtDNA and thyroid cancer remains unclear. Previous studies by others and us strongly suggested that mtDNA mutations in complex I may participate in thyroid cancer processes according to sequencing results of thyroid cancer tissue, although the associated pathogenic processes remain unknown.
View Article and Find Full Text PDFGRP75 (75-kDA glucose-regulated protein), defined as a major component of both the mitochondrial quality control system and mitochondria-associated membrane, plays a key role in mitochondrial homeostasis. In this study, we assessed the roles of GRP75, other than as a component, in insulin action in both in vitro and in vivo models with insulin resistance. We found that GRP75 was downregulated in mice fed a high-fat diet (HFD) and that induction of Grp75 in mice could prevent HFD-induced obesity and insulin resistance.
View Article and Find Full Text PDFZhongguo Ying Yong Sheng Li Xue Za Zhi
November 2020
To investigate the therapeutic effect of Ginseng Guipi pill on rats with spleen failing to control blood syndrome and its effect on liver. Forty SPF male Sprague-Dawley rats were randomly divided into normal control group (=10) and experimental group (=30). For the first 42 days, the experimental group swam for 30 minutes every day, eating for one day and fasting for two days (diet disorder).
View Article and Find Full Text PDFAccumulating evidence demonstrates that extract exerts antiviral and anti-inflammatory effects in various diseases. The present study aimed to investigate the potential effects of on rotavirus SA11-induced diarrhea in mice. Diarrhea severity, levels of inflammatory cytokines, histological changes in the small intestine and the underlying mechanisms were evaluated in rotavirus-stimulated mice treated with 1, 2 and 4 mg/kg/day or 4 mg/kg/day ribavirin (positive control).
View Article and Find Full Text PDFBackground: This study aimed to compare 1.25 and 1.75 mmol/L dialysate calcium for their effects on parathyroid hormone (PTH) and mineral metabolism in peritoneal dialysis (PD).
View Article and Find Full Text PDFGrowing evidence shows that enhanced reactive oxygen species (ROS) production is an important contributor to obesity and its co-morbidities, but the functional link between ROS and obesity remains elusive. In this study we used the model animal Caenorhabditis elegans to explore the role of ROS in obesity. Initially, when ROS production was enhanced by treatment with low concentration of paraquat or juglone, both abnormal high fat accumulation and fatty acid composition were observed in wild type worms.
View Article and Find Full Text PDFMitochondrial dysfunction is closely associated with the pathogenesis of nonalcoholic steatohepatitis (NASH). The aim of the present study was to comprehensively determine mitochondrial abnormalities in NASH by detecting the proteomics in liver mitochondria in a NASH rat model, which was induced for 16 weeks by the provision of a high fat and high cholesterol diet (HFD). Serum parameters, including triglycerides, total cholesterol, low‑density lipoprotein cholesterol and high‑density lipoprotein cholesterol were determined, and hematoxylin and eosin staining of liver tissues was examined to evaluate the NASH rat model.
View Article and Find Full Text PDFZhongguo Ying Yong Sheng Li Xue Za Zhi
April 2017
Objective: To observe the effect of AdipoRon, an adiponin receptor agonist, on insulin sensitivity in mouse myoblast cell line (C2C12) and to explore its mechanism.
Methods: C2C12 was induced to differentiate into myoblasts by using horse serum. Then the cells were divided into 6 groups (9 double wells):blank control group, high dose AdipoRon group, low dose AdipoRon group, insulin group and the low dose AdipoRon with PI3K inhibitor (phosphatidylinositol 3 kinase) group and the insulin with PI3K inhibitor group.