Search results for "G6PD"
showing 6 items of 6 documents
Valutazione dei genotipi G6PD nella popolazione Siciliana e identificazione di una nuova variante: “G6PD*Palermo R257M”.
2008
La deficienza enzimatica di G6PDH è uno dei più comuni disordini nella popolazione siciliana in quanto più di 400 milioni di persone ne sono affette. Al fine di valutare la reale prevalenza dei casi nel nostro territorio presentiamo i dati di uno studio di genotipizzazione del locus G6PD (Xq28). 349 soggetti Siciliani di sesso maschile affetti da deficienza di G6PDH sono stati tipizzati secondo varie metodiche. Gli approcci di laboratorio sono: RFLPs (NlaIII, BclI, PstI e BspHI), PCR-Reverse Dot Blot (RDB) ed il sequenziamento diretto del gene. Le prime metodiche sono utili per definire le mutazioni già descritte e comunque le più comuni; il sequenziamento diretto è determinante per la valu…
Moderate overexpression of glucose-6-phosphate dehydrogenase improves healthspan in mice. Implications in skeletal muscle regeneration
2019
An enormous increment in the average lifespan of diverse populations occurred worldwide in the 20th century. In the last 10–15 years, the importance has changed from extending average and even maximal longevity to favoring healthy aging, and many researchers have focused their studies on the aim at extending healthspan. Prolonging lifespan without taking care of improving healthspan can derive in a long time of living with disabilities and constitutes a risk factor for the old population to suffer a higher prevalence of aging-related diseases. Indeed, modern disease treatments frequently diminish mortality without any effect on the deterioration of overall health. Understanding the mechanis…
Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia
2010
Deficit di G6PD: diagnosi fenotipica e genetica. Prevalenza e caratterizzazione molecolare delle varianti genetiche nella popolazione pediatrica sici…
2015
Prolonging in utero-like oxygenation after birth diminishes oxidative stress in the lung and brain of mice pups☆
2013
Background Fetal-to-neonatal transition is associated with oxidative stress. In preterm infants, immaturity of the antioxidant system favours supplemental oxygen-derived morbidity and mortality. Objectives To assess if prolonging in utero-like oxygenation during the fetal-to-neonatal transition limits oxidative stress in the lung and brain, improving postnatal adaptation of mice pups. Material and methods Inspiratory oxygen fraction (FiO2) in pregnant mice was reduced from 21% (room air) to 14% (hypoxia) 8–12 h prior to delivery and reset to 21% 6–8 h after birth. The control group was kept at 21% during the procedure. Reduced (GSH) and oxidized (GSSG) glutathione and its precursors [γ-glut…
Age-dependent regulation of antioxidant genes by p38α MAPK in the liver
2018
p38α is a redox sensitive MAPK activated by pro-inflammatory cytokines and environmental, genotoxic and endoplasmic reticulum stresses. The aim of this work was to assess whether p38α controls the antioxidant defense in the liver, and if so, to elucidate the mechanism(s) involved and the age-related changes. For this purpose, we used liver-specific p38α-deficient mice at two different ages: young-mice (4 months-old) and old-mice (24 months-old). The liver of young p38α knock-out mice exhibited a decrease in GSH levels and an increase in GSSG/GSH ratio and malondialdehyde levels. However, old mice deficient in p38α had higher hepatic GSH levels and lower GSSG/GSH ratio than young p38α knock-…