Introduction: Muscular dystrophy is a hereditary degenerative muscle disease which progressively reduces the strength of the muscles that control movement. In this study, we tried to investigate genetic variants in muscular dystrophy using sequencing of whole exons. Case Presentation: A family with two affected patients with muscular dystrophy was referred for genetic counseling followed by exome sequencing testing on the proband. After filling out informed consent, blood samples were obtained from each available family member. Candidate genetic variant was confirmed using Sanger sequencing. Conclusions: Exome data analysis revealed a variant of c.2864 + 1G > A in the proband, which altered the exon-intron 26 splice site within the DYSF gene. Genetic changes in this gene are known to be associated with muscular disorders, such as limb-girdle muscular dystrophy and other dysferlinopathies. Assessment of this genetic variant in the patient's sister also showed homozygous variant. Since the patient's sister was married to her cousin, the same variant was tested in her husband, which was normal homozygous. NGS-based techniques, including whole-exome sequencing, can identify the molecular genetic basis of the disease in families with limb-girdle muscular dystrophy. The results can be helpful in identifying potential carriers in the family and in prenatal diagnosis to the families involved.
Introduction: Neurotrophic factors change in response to nerve damage. Stachyslavandulifolia belongs to the Laminaceae family and since tea has antioxidant and anti-inflammatory effects, therefore, this study aimed to determine the effects of hydroalcoholic extract of mountain tea and its effect on NT3 gene expression after compression.
Methods: In this experimental study, at first the hydro-alcoholic extract of stachys was prepared by the Soxhlet method. In this study, 36 Wistar male rats , 250-300 gr, were randomly divided into 9 groups, 4 rats in each group, and included control, compression (1, 7, 14 and 21 days) and experimental (1, 7, 14 and 28 days) groups. Experimental groups were treated by 75 mg / kg of hydro-alcoholic extract of stachys and to induce the stress in the control group, saline serum was injected. In compression and experimental groups , the sciatic nerve of right leg was compressed for 60 seconds. The first injection of extract in experimental group was performed intraperitoneally and immediately after the compression and the second one was injected 7 days later. Then the sampling was performed of lumbar spinal cord on 1, 7, 14 and 28 days in compression and experimental groups and the total RNA was extracted from the spinal cord segments, cDNA was synthesized and after that the alteration of gene expression of NT3 samples was studied in both samples, without treatment and treated with hydro-alcoholic extract.Data were analyzed using MxPro software and Anova test with a significant level of p <0.05 and Excel software was used for drawing graphs.
Results: The results showed that NT3 gene expression was significantly increased in the compression and treatment groups (p <0.001). Although, the NT3 gene expression was decreased in the treatment group compared to the compression group.
Conclusion: It seems that hydroalcoholic extract of Stachyslavandulifolia shoots did not affect NT3 gene expression.
Background: Nickel is a carcinogenic, heavy metal released through industrial activities and via natural resources. It is able to cause DNA damages by reducing the efficiency of DNA repair mechanisms. However, the exact time point at which it is able to interfere with these mechanisms is not yet clearly understood. Methods: To find the most nickel-vulnerable time of repair mechanisms, human dermal fibroblasts (HDF) were treated with three doses of nickel before and after X-irradiation. The induced frequency of chromosomal abnormality was studied using micronucleus assay in binucleated cells. The cytotoxicity of different treatments was established using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. Results: The results revealed that nickel treatment had a synergistic effect on inducing Micronucleus frequency only when cells were treated 2 hours before X-irradiation. The X-ray treatment of the cells with 5 and 10 mM nickel had a cytotoxic effect mainly when given 6 hours after the irradiation. Conclusion: The results suggest that nickel can interfere with human DNA repair mechanisms only at the start of the process, while having no significant effect on the human DNA repair mechanisms when activated.
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