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Background and Objectives: Friedreich’s ataxia (FRDA) is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of position and vibration sense. Approximately two-thirds of these patients suffer from cardiomyopathy and more than 30% have diabetes mellitus. Individuals with FRDA have identifiable mutations in the FXN gene . The most common type of mutation which is observed on both alleles in more than 98% of patients is an expansion of a GAA triplet-repeat in intron of FXN gene. Approximately 2% of individuals with FRDA are compound heterozygotes, who have a GAA expansion in the disease-causing range in one FXN allele and an inactivating FXN mutation in another allele . Aim of the present study was to investigate exon 1 in FRDA gene in patients with clinical symptoms of Friedreich’s Ataxia that have not GAA triplet-repeat expansion in intron 1 of FXN gene. Methods: In this study , exon 1 in 5 patients suspected of FRDA analyzed using PCR and sequencing. Results : An A to G transition at nucleotide number 815284, in exon 1 was observed in all patients. Conclusion: The results of this study showed that disease-causing homozygous mutations could be because of consanguinity marriage in Iran. Therefore, sequencing of all exons of the gene is necessary.

Background and ObjectivesThis study was undertaken to evaluate the effect of the cultivated Satureja khuzestanica essential oil (SKEO) on activity and gene expression of hepatic GK in normal and diabetic rats. MethodsBiochemical parameters such as glucose, insulin, and HbA1c plasma levels and oral glucose tolerance test were all analyzed. The cultivated SKEO was orally administered at different doses (100 mg/kg per day) to normal as well as diabetic rats for 21 days. The level of mRNA hepatic GK was determined using the quantitative real- time RT-PCR technique.ResultsThe plasma glucose concentrations of diabetic rats receiving wild SKEO compared with diabetic control were significantly decreased. The levels of plasma insulin in diabetic rats treated with wild SKEO were slightly increased compared with diabetic controls. In the present study, we observed decreased hepatic GK activity and its mRNA levels in diabetic control rats compared with normal controls and their moderately higher levels after being treated with wild SKEO. We thought, the slightly increased levels of insulin indicates that the wild SKEO causes a little stimulation in insulin secretion from remnant B-cells through its antioxidant properties. ConclusionModerate elevation in activity and gene expression of hepatic GK in diabetic rats treated with the wild SKEO is one of the factors involved in anti-hyperglycemic effect that may contribute to the plasma glucose lowering action of SKEO which seems to be in relation with antioxidant properties of SKEO.Keywords: Anti-hyperglycemic; Diabetic Rats; Gene Expression; Glucokinase; Hypoglycemic Agents; Satureja Khuzestanica Jamzad