FACL4 gene mutations in three Italian MR pedigrees have been reported as causing non-specific mental retardation. To investigate the possible genetic contribution of the FACL4 gene to non-specific mental retardation children of the Qin-Ba mountain region in China we performed an association study of 556 subjects (118 NSMR, 116 borderline NSMR, and 322 controls) from check details the Han children of northwestern China using five common SNPs (rs5943427, rs12856122, rs5943418, rs7886473, and rs10126612) in the gene. No significant differences of genotypes and alleles frequencies from each single SNP between NSMR and controls were observed.
Pairwise linkage disequilibrium analysis showed that four SNPs rs5943427, rs12856122, rs5943418, and rs7886473 were in strong linkage disequilibrium; therefore, a haplotype analysis was performed. However, there were no any significant differences in haplotype distributions between cases and controls. In conclusion, we have found no evidence for the FACL4 gene conferring susceptibility on non-specific mental Danusertib order retardation children of the Qin-Ba mountain
region in China. (C) 2008 Elsevier Ireland Ltd. All rights reserved.”
“Changes of cardiac M(2)-muscarinic receptor (M(2)-mAChR) gene expression was investigated in type-1 like diabetic rats induced by intravenous injection of streptozotocin (STZ) and type-2 like diabetic rats induced by fed with fructose-rich chow. Systolic blood pressure (SBP) in STZ-diabetic rats was significantly lower than that in age-matched non-diabetic rats, while
the SBP in type-2 like diabetic rats was higher than in non-diabetic rats. Also, the mRNA or protein level of cardiac M(2)-mAChR in STZ-diabetic rats was markedly higher than non-diabetic rats, but it was not observed in type-2 like diabetic rats as compared to age-matched non-diabetic rats. Arecaidine propargyl ester (APE), the agonist of M(2)-mAChR, produced the a marked reduction of heart rate in STZ-diabetic rats but made less influence on heart rate in fructose-fed rats or non-diabetic rats. The results suggest that cardiac M(2)-mAChR gene expression is raised in type-1 like diabetic rats but not in type-2 like diabetic rats, this difference mainly due to hyperglycemia, for the production of hypotension in diabetic disorders. (C) 2008 Published by Elsevier Ireland Ltd.”
“Auditory transduction in the cochlear is subject to modulate higher auditory centers in the brain via the efferent systems, which provide protection against damage caused by excessive excitation during auditory over stimulation. GABA is a proven inhibitory neurotransmitter in the efferent systems in mammalian cochlear. KCC2 is a neuron-specific potassium chloride cotransporter whose role in mature central neurons is to maintain the low intracellular Cl(-) concentrations required for the hyperpolarizing responses to the inhibitory amino acids GABA and glycine.