Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.

INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrated an important allelic variability among patients, but very few data are known about the genetic variation among Iranian populations. METHODS: In this study, exon direct sequencing of PKD1 was performed in a seven-year old boy with ADPKD and in his parents. The patient's father was ADPKD who was affected without any kidney dysfunction, and the patient's mother was congenitally missing one kidney. RESULTS: Molecular genetic testing found a mutation in all three members of this family. It was a missense mutation GTG>ATG at position 3057 in exon 25 of PKD1. On the other hand, two novel missense mutations were reported just in the 7-year-old boy: ACA>GCA found in exon 15 at codon 2241 and CAC>AAC found in exon 38 at codon 3710. For checking the pathogenicity of these mutations, exons 15, 25, and 38 of 50 unrelated normal cases were sequenced. CONCLUSION: our findings suggested that GTG>ATG is a polymorphism with high frequency (60%) as well as ACA>GCA and CAC>AAC are polymorphisms with frequencies of 14% and 22%, respectively in the population of Southwest Iran.

A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene.

In this study, a new alpha globin gene mutation on the α2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province, Southwestern Iran of Lor ethnicity. This mutation caused no severe hematological abnormalities in the carriers. From the nature of substituted residues in α2-globin, it is widely expected that this mutation leads to unstable and truncated protein and should be detected in couples at risk for α-thalassemia.

Weight Management Effects of a Mixture of Conjugated Linoleic Acid and L-Carnitine in Diet Induced Obese Rats.

Aims: To examine simultaneous effects of Conjugated Linoleic Acid (CLA) and L-carnitine (LC) on weight gain in diet induced obese rats. Study Design: Experimental study. Place and Duration of Study: Department of Nutrition, Faculty of Para-Medical Sciences, Ahvaz Jundishapur University of Medical Sciences (January 2014 to January 2015). Methodology: Forty male Wistar rats were randomly divided into two groups: Normal fat diet (n=8), and High fat diet (HFD) (n=32). After eight weeks, the second group maintained HFD and was subdivided into 4 categories: Corn Oil group, 500 mg CLA, 200 mg LC, and 500 mg CLA+ 200 mg LC (all doses per kg body weight), which were administered by oral gavage for four weeks. Body weights were measured and recorded weekly by means of a digital scale. SPSS Version 16 was used for statistical analysis. Results: At the end of eighth week, a significant difference in weights was observed between HFD (295.43±5.36 gr) and NFD (246.38±6.48 gr) group. After four weeks, LC significantly reduced weight gain by 7.5% (P = .047). Trend of weight gain in CLA and LC + CLA groups were decelerated (24 and 25 gr respectively), but it was statistically insignificant (P = .08, .12 respectively). Conclusion: Findings of this experimental study showed that a high fat diet led to obesity and combined LC and CLA could decelerate weight gain to some extent. However, it needs further work to validate reliability in human.