“Zellweger syndrome (ZS) is a neonatal-lethal genetic disease that affects all tissues, and features neuropathology that involves primary developmental defects as well as neurodegeneration. Neuropathological changes include abnormal neuronal migration affecting the cerebral hemispheres, cerebellum and inferior olivary complex, abnormal Purkinje cell arborisation, demyelination and post-developmental neuronal Autophagy Compound Library degeneration. ZS is caused by mutations
in peroxisome biogenesis, or PEX, genes which lead to defective peroxisome biogenesis and the resultant loss of peroxisomal metabolic function. The molecular and cellular bases of ZS neuropathology are still not completely understood. Attempts to explain the neuropathogenesis have implicated peroxisomal metabolic dysfunction, and more specifically the loss of peroxisomal products, such as plasmalogens and docosahexaenoic, and the accumulation of peroxisomal substrates, such as very-long-chain-fatty acids. In this review, consideration is also given to recent findings that implicate other candidate check details pathogenetic factors, such as mitochondrial dysfunction, oxidative stress, protein misfolding, aberrant cell signalling, and inflammation -
factors that have also been identified as important in the pathogenesis of other neurological diseases. (C) 2014 Elsevier Ltd. All rights reserved.”
“2,3,7,8-Tetra-chlorodibenzo-p-dioxin (TCDD) is one
of the most toxic dioxins belonging to the wide family of Endocrine Disruptors (EDs), environmental chemicals that adversely interfere with endocrine processes and upset normal function of some target systems. It has been hypothesized that EDs enter cellular cytosol, bind to the Aryl Hydrocarbon Receptor (AhR)and form a heterodimer with the AhR nuclear translocator; this complex binds xenobiotic responsive elements that drive activation of the so-called “Ah gene battery” Spermatogenesis Related Factor-2 (SRF-2) is one of the most recently cloned genes involved in germ cell division and differentiation. whose expression seems to be affected by treatment with Selleckchem Compound Library TCDD. With the aim to try to clarify the underlying mechanism of TCDD and to investigate if SRF-2 gene represents a good biomarker for ED exposure, we used Xenopus laevis as an animal model, considered to be almost insensitive toward TCDD effects. In this Study we reported the partial cloning of SRF-2 cDNA in X. laevis: we then evaluated the SRF-2 expression in embryos exposed to TCDD 0.62 mu M by real-time PCR. We also analyzed SRF-2 expression in several adult control tissues and in testis after perilymphatic injection of a single dose of 10 mu g/kg body weight. Although SRF-2 expression does not seem to be affected by the treatment, exposed embryos died within 15 days.