RESUMO
Background: Possible mechanisms of Alzheimer Disease [AD] such as inflammation and oxidative stresses in the brain led us to investigate potential AD therapeutics of Melilotus officinalis, an herbal extract, with possible role as an anti-inflammatory and anti-oxidant agent. Among different genes which had important role in Sporadic AD [SAD], three genes including DAXX, NFkB and VEGF have shown significant statistical diversity in the brains of Alzheimer patients
Methods: These genes were chosen to be investigated for neuroprotective effects of the extract by comparing the expression level in the hippocampus of Sporadic AD [SAD] rat model using quantitative polymerase chain reaction [qPCR] in the treated and untreated groups. In addition, therapeutic effects at the behavioral, learning and memory level by Morris Water Maze [MWM] test were investigated
Results: The results represented significant decreased expression in Daxx, Nfkb and Vegf genes in the SAD rat's model treated with the herbal extract compared to the Streptozotocin-induced [STZ-induced] rats. Furthermore, no significant changes were seen in swimming distance and time for finding the hidden platform in the herbal-treated compared to the STZ-induced group. In memory level, no significant changes were observed among treated and untreated groups
Conclusion: It seems that the herbal extract may have significant effect on Alzheimer-related gene expression changes but not on clinical levels
RESUMO
Usher syndrome [USH] is a clinically and genetically heterogeneous disease. The three recognized clinical phenotypes, USH1, USH2 and USH3, are caused by mutations in nine different genes. USH2C is characterized by moderate-to-severe hearing loss, retinitis pigmentosa and normal vestibular function. Earlier reports describe mutations in VLGR1 in five families segregating this phenotype. We ascertained an Iranian family, in which nine family members were found to have hearing loss. Five patients were diagnosed to have Usher syndrome, while two individuals have nonsyndromic hearing loss. Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, while the two subjects with nonsyndromic hearing loss did not, indicating that their hearing loss is due to another genetic cause. We identified a new mutation in VLGR1 segregating with the USH2C in this family. The mutation is a large deletion g.371657-507673del containing exons 84 and 85 and is presumed to lead to a frameshift. The deletion probably arose by replication slippage caused by the presence of a short 7-bp repeat at the deletion breakpoints. No genotype-phenotype correlation could be found for USH2C. In the family described, the first male subjects with USH2C and a VLGR1 mutation have been identified
RESUMO
Congenital hearing loss with many genetic and environmental causes affecting 1 in 1000 newborns. Mutations in the GJB2 [Gap Junction Beta-2] gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of GJB2 mutations in Lurastan non-syndromic deaf population using ARMS/PCR, DHPLC and direct sequencing. For this purpose, 106 chromosomes from 53 patients were studied. Eighteen chromosomes [17%] carry GJB2 mutations including 35delG, 314dell4, 512insAACG, -3170G>A, W24X, V95M and 510insCGAA. The last mutation is a novel GJB2 mutation, 35delG mutation was diagnosed in 10 chromosomes [9/4%]; 4 patients were homozygote and 2 patients were heterozygote. Also polymorphism VI531 were found in 3 families. This frequency is significantly higher compared to that of the whole population of Iran