[Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type I].

OBJECTIVE: To identify the mutation of the autoimmune regulator gene (AIRE) in a Chinese family with autoimmune polyendocrinopathy syndrome type I (APS-I). METHODS: The AIRE gene mutations were detected using PCR and direct DNA sequencing. Restriction enzyme analysis was used to confirm the mutations and bioinformatic methods were used to predict the possible impact of the mutations on the structure and function of the AIRE protein. RESULTS: A compound heterozygous mutation of A19T/R257X was detected in the proband. Her father had the A19T mutation in exon 1, but this mutation was not detected in 100 unrelated healthy individuals. Her mother had the R257X mutation in exon 6. CONCLUSION: This is the first report about AIRE mutations in Chinese APS-I kindred. The A19T mutation identified in this study has not been reported in the human gene mutation database (HGMD); the R257X has not been reported in Asians.

Resveratrol reserved hypoxia-ischemia induced childhood hippocampal dysfunction and neurogenesis via improving mitochondrial dynamics.

Early life stress usually causes the abnormal brain development and results in the onset of cognitive and emotional disorders in later childhood. Neonatal hypoxic ischemia (HI) causes dramatic brain damage in early life and resulted in serious impairment to brain development. Hippocampal neurogenesis, as one of the key structural plasticity to mediate animal behaviors, can be impact by neonatal HI until child stage. In our study, we identified the natural product resveratrol (RES) as the potential alternative therapy to improve brain functions of childhood mice after underwent neonatal HI. Treatment of RES improved the spatial learning and memory in morris water maze and increased the recognize ability in objective recognition task. Moreover, RES also attenuate the depressive and anxiety like mood in child mice after experiencing neonatal HI. Brain morphological study showed RES promote the proliferation of neural stem cells and increase the neuronal differentiation in hippocampal dentate gyrus (DG) region. Our in vitro study in C17.2 neural stem cell line demonstrated RES could prevent the mitochondrial fragmentation induced by hypoxia. Moreover, same effect was also observed in primary cultural neurons. To summarize, RES could prevent the cognitive deficit and depressive/anxiety mood in childhood with experience of neonatal HI via promoting hippocampal neurogenesis. Improving mitochondrial dynamics could be one of the key biological mechanisms underlying such effects of RES.