The purpose of the study was to investigate the impact of rat cytomegalovirus(RCMV) infection on the development of the nervous system in rat embryos,and to evaluate the involvement of Wnt signaling pathway key molecules and the downstream gene neurogenin 1(Ngn1) In RCMV infected neural stem cells(NSCs).Infection and control groups were established,each containing 20 pregnant Wistar rats.Rats in the infection group were inoculated with RCMV by intraperitoneal injection on the first day of pregnancy.Rat E20 embryos were taken to evaluate the teratogenic rate.NSCs were isolated from E13 embryos,and maintained in vitro.We found:1) Poor fetal development was found in the infection group with low survival and high malformation rates.2) The proliferation and differentiation of NSCs were affected.In the infection group,NSCs proliferated more slowly and had a lower neurosphere formation rate than the control.The differentiation ratio from NSCs to neurons and glial cells was significantly different from that of the control,showed by immunofluorescence staining.3) Ngn1 mRNA expression and the nuclear β-catenin protein level were significantly lower than the control on day 2 when NSCs differentiated.4) The Morris water maze test was performed on 4-week pups,and the infected rats were found worse in learning and memory ability.In a summary,RCMV infection caused abnormalities in the rat embryonic nervous system,significantly inhibited NSC proliferation and differentiation,and inhibited the expression of key molecules in the Wnt/β-catenin signaling pathway so as to affect NSCs differentiation.This may be an important mechanism by which RCMV causes embryonic nervous system abnormalities.

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese pedigree affected by glycogen storage disease (GSD) type Ia with gout as the first manifestation. METHODS: Clinical and biochemical data of the pedigree were collected. Available members of the pedigree were subjected to gene sequencing, and the result was analyzed by bioinformatics software. The pedigree was followed up for five years. RESULTS: The proband was a young female manifesting recurrent gout flare, hypoglycemia, and hypertriglyceridemia. One of her younger brothers also presented with dysplasia and hepatic adenoma. Gene sequencing revealed that the proband and her younger brother both harbored c.1022T>A (p.I1e341Asn) and c.230+5G>A compound heterozygous variants of the G6PC gene , which were inherited from their father and mother, respectively. Among these, the c.230+5G>A is an intron region variant which was unreported previously, and bioinformatics analysis showed that it may impact mRNA splicing of the gene. The proband was treated with raw corn starch, allopurinol, and fenofibrate. Gout was well controlled, and she had given birth to a baby girl without GSD. CONCLUSION GSD Ia should be considered among young gout patients with hypoglycemia and hepatomegaly, for which gene sequencing is warranted. GSD Ia has a good prognosis after comprehensive treatment with diet and medicine.
China ; Female ; Glycogen Storage Disease Type I ; Gout/genetics* ; Humans ; Hypoglycemia ; Male ; Pedigree ; Symptom Flare Up