A 5:2 Intermittent Fasting Regimen Ameliorates NASH and Fibrosis and Blunts HCC Development

Medicine, Hepatobiliary System, Endocrinology, Oncology, Life Sciences, Biochemistry,
Fasting Regimen   NASH   Liver Fibrosis   Hepatocellular Carcinoma   PPARα   PCK1  

New Scientific Discovery: The 5:2 Intermittent Fasting Regimen Improves Non-Alcoholic Steatohepatitis and Reduces Hepatocellular Carcinoma Occurrence Research Background and Problem Statement Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease worldwide, with its prevalence increasing alongside rising obesity rates. N...

COQ7 Defect Causes Prenatal Onset of Mitochondrial CoQ10 Deficiency with Cardiomyopathy

Medicine, Endocrinology, Gastroenterology, Cardiovascular System, Life Sciences, Genetics,
COQ7 gene   Mitochondrial CoQ10 deficiency   Cardiomyopathy   Gastrointestinal obstruction   Familial genetics   Therapeutic intervention   Prenatal onset  

Perinatal onset of mitochondrial CoQ10 deficiency due to COQ7 defect with cardiomyopathy and gastrointestinal obstruction Background Coenzyme Q10 (CoQ10) is a lipid-soluble molecule with antioxidant properties and a key component in electron transfer during oxidative phosphorylation in mitochondria. CoQ10 deficiency is a rare mitochondrial metaboli...

Validity of European-Centric Cardiometabolic Polygenic Scores in Multi-Ancestry Populations

Medicine, Endocrinology, Cardiovascular System, Life Sciences, Genetics,
Polygenic scores   Cardiometabolic diseases   Genetic risk   Ancestry groups   Health disparities   UK Biobank  

Effectiveness of European-derived Cardiometabolic Polygenic Scores in Multi-ancestral Populations In recent years, Polygenic Scores (PGS) have received widespread attention as a tool for assessing individual genetic risk. However, most existing PGS are based on Genome-Wide Association Studies (GWAS) data from white European populations. This has le...

Further Evidence Supporting the Role of GTDC1 in Glycine Metabolism and Neurodevelopmental Disorders

Medicine, Endocrinology, Neurology, Life Sciences, Genetics,
GTDc1   Glycine Metabolism   Neurodevelopmental Disorders   Genetic Factors   CNVs   Phenotype  

In recent years, research on Neurodevelopmental Disorders (NDDs) has uncovered numerous genetic variants associated with NDDs, ranging from Single Nucleotide Variants (SNVs) to large structural changes (such as chromosomal rearrangements). Against this research background, Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, and other researchers ...

Expanding the Phenotype of Copy Number Variations Involving NR0B1 (DAX1)

Medicine, Pediatrics, Obstetrics and Gynecology, Endocrinology, Life Sciences, Cell Biology, Biochemistry, Genetics,
Copy number variations   Gonadal dysgenesis   NR0B1 gene   DAX1   46,XY disorders of sex development   Chromosomal microarray analysis   Prenatal screening  

This study aims to explore the relationship between copy number variations (CNVs) involving the NR0B1 (DAX1) gene and 46,XY gonadal dysgenesis. 46,XY gonadal dysgenesis (GD) is a disorder of sex development caused by the failure of gonads to fully differentiate into testes. This condition can lead to individuals presenting with female or ambiguous ...

Hyperglycemia Enhances Brain Susceptibility to Lipopolysaccharide-Induced Neuroinflammation via Astrocyte Reprogramming

Medicine, Endocrinology, Neurology, Life Sciences, Biochemistry,
hyperglycemia   neuroinflammation   astrocytes   microglia   lipopolysaccharide   RNA-sequencing   cognitive function  

Hyperglycemia Enhances Brain Susceptibility to Lipopolysaccharide-Induced Neuroinflammation via Astrocyte Reprogramming Academic Background Introduction Diabetes is a chronic metabolic disease affecting millions of people worldwide, characterized by hyperglycemia, or elevated blood glucose levels. For a long time, research has primarily focused on ...