“Glycogen storage disease type Ia (GSDIa) is caused by a g

“Glycogen storage disease type Ia (GSDIa) is caused by a genetic defect in the hepatic enzyme glucose-6-phosphatase (G6Pase-alpha), which manifests as life-threatening hypoglycemia with related metabolic complications. A G6Pase-alpha knockout (KO) mouse model was generated to study potential therapies for correcting this disorder. Since then, gene therapy studies have produced promising results, showing long-term improvement in liver histology and glycogen metabolism. Under existing protocols, however, untreated KO pups seldom survived weaning. Here, we present a thorough characterization of the G6Pase-alpha KO mouse, as well as the husbandry protocol for rearing this strain to adulthood. These

mice were raised with only palliative care, and characterized from birth through 6 months of age. Once KO mice have EPZ5676 survived the very frail weaning period, their size, agility, serum lipids and glycemic control improve dramatically, reaching levels approaching their wild-type littermates. In addition, our data reveal that adult mice lacking G6Pase-alpha are able to mate and produce viable offspring. However, liver histology and glycogen accumulation do not improve with age. Overall, the reliable production of mature KO mice could provide a critical tool for advancing the GSDIa field,

as the availability of a robust enzyme-deficient adult offers a new spectrum of treatment avenues that would not be tolerated by the frail pups. Most importantly, our detailed characterization of the adult KO mouse provides a crucial baseline for accurately Torin 2 purchase gauging the efficacy of experimental therapies in this important model. Laboratory Investigation (2009) 89, 1032-1042; doi:10.1038/labinvest.2009.64; published online 6 July 2009″
“In the last decade a large number of studies focused on the recognition of gene variants modulating temperamental traits. The gene coding for the estrogen receptor alpha (ESR1)appears to bean interesting candidate and it has been found to be linked to Harm avoidance (HA). The aim of the present study was to investigate whether the ESR1 TA dinucleotide

repeat polymorphism is associated with HA temperamental E1 Activating inhibitor trait in a sample of Caucasian University students. One hundred ninety healthy subjects were genotyped for ESR1 TA dinucleotide repeat polymorphism and were administered the Temperament and Character Inventory (TCI). ESR1 TA repeat lengths were dichotomized into short and long categories. ANOVA was used to examine the influence of ESR1 variants (short/long) on the means of the TCI HA scores. HA was significantly associated with age and gender in our sample, being higher in older and female subjects. In the global sample as well as in men and women separately, individuals carrying the S/S variant showed significantly higher HA scores. Further analysis on the HA subscales revealed that specific differences could exist between men and women. Our results further suggest a possible role of ESR1 variants on HA.

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