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<p><b>OBJECTIVE</b>To assess the value of genetic testing for Fragile X syndrome (FXS).</p><p><b>METHODS</b>A domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting.</p><p><b>RESULTS</b>Pedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus. In pedigree 6, the proband was mosaic for a full-mutation allele and a pre-mutation allele. His sister was asymptomatic with a full-mutation. His mother carried pre-mutation allele, while his father and sister's baby were normal. The number of CGG repeats of the pedigrees 2 to 5 were in the normal range.</p><p><b>CONCLUSION</b>Genetic testing can provide an effective way to prevent FXS caused by FMR1 mutations and enable prenatal diagnosis for families with a high risk for the disease.</p>
RESUMO
Objective To explore the effect of inhibitor of MEK/ERK pathway on the behaviors of autistic rats .Methods Autistic rats were made by intraperitoneal injection of sodium valproate (VPA) after pregnancy for 12 .5 days .After VPA injec-tion ,pregnant rats were treated with U0126 via oral at 400 μg/kg dose per day until weaning .Young rats were divided to 4 groups :control group ,VPA group ,U0126 group ,VPA combined U0126 group .The social interaction and behaviors of young rats were e-valuated at 35 days after bornning .The levels of MEK and phosphorylated ERK in brain tissues were investigated by Western blot . Results The autistic rat mode was prepared successfully .Compared with control rats ,the rats treated with VPA showed low the social interaction ,long moving time in central area and reducing standing times .Treatment with U0126 alone didn′t change the so-cial interaction and behaviors of young rats ,but VPA combined U0126 group could improve VPA-induced autistic-like behaviors . Western blot results show that compared with the control group ,the rats treated with VPA could enhance the prefrontal cortex of rats ,the hippocampus and cerebellum in the organization of MEK and ERK phosphorylation level ;while VPA combined U0126 group could inhibit the brain tissue of MEK and ERK phosphorylation level .Conclusion U0126 can improve the model rats of au-tism disorders behavior ,the mechanism may be related to the inhibition of MEK/ERK signaling pathway in the brain .
RESUMO
<p><b>OBJECTIVE</b>To test the effect of sulindac on autistic behaviors in a rat model and explore the possible mechanisms.</p><p><b>METHODS</b>Autistic rat models were established by a single intraperitoneal injection of sodium valproate (VPA) at 12.5 days of pregnancy. The pregnant rats were treated with oral sulindac at a daily dose of 80 mg/kg until weaning of the newborn rats (23 days after being born), which were divided into control, VPA treatment, sulindac treatment, and VPA+ sulindac treatment groups. The social interaction and neuroethology of the newborn rats were evaluated at 35 days, and the levels of β-catenin and phosphorylated Gsk3β in the brain tissues were investigated by Western blotting.</p><p><b>RESULTS</b>Compared with the control rats, the rats treated with VPA showed lower social interaction, longer moving time in central area, and reduced standing times. Treatment with sulindac alone resulted in no obvious changes in the social interaction or neuroethology of the newborn rats, but sulindac treatment corrected VPA-induced autistic-like behaviors. Sulindac also attenuated VPA-triggered p-Gsk3β downregulation and β-catenin upregulation in the prefrontal lobe, seahorse and cerebellum.</p><p><b>CONCLUSION</b>Sulindac can improve the behaviors of autistic rats possibly by suppressing Wnt signaling pathway.</p>