3 research outputs found
The Analysis of Elimination of Subsidy on Residential Water Demand Case study: The City of Tehran
In this study, in order to analysis the effects of subsidy on residential water demand, the long- term residential water function for the city of Tehran is estimated. All data are in the form of quarterly time series for the period covering the Iranian years 1379 to 1387. Independent variables include average water price, average household expenditure, consumer price index, total water price, subsidy, average rainfall and average temperature. The results denote that the decrease or elimination of water subsidy decreases the water demand in household section. Moreover, among all variables which affect water demand, subsidy has proportionately a greater effect on water consumption. Minimum households’ water consumption in Tehran is 170 liters per day and the greatest excess in residential water consumption takes place in summers and autumns
Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran
Background:
Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous group of diabetes characterized by noninsulin-dependent, autosomal-dominant disorder with strong familial history, early age of onset, and pancreatic beta-cell dysfunction. Mutations in at least 14 different genes are responsible for various MODY subtypes. Heterozygous mutations in the hepatocyte nuclear factor 1 alpha (HNF1A) gene are responsible for the MODY3 subtype, which is a common subtype of MODY in different studied populations. To date, more than 450 different variants of this gene have been reported as disease causing for MODY3. This study was carried out to evaluate HNF1A mutations in Iranian diabetic families fulfilling MODY criteria.
Materials and Methods:
Polymerase chain reaction and Sanger sequencing were performed. All the ten exons of the HNF1A gene were sequenced in ten families, followed by cosegregation analysis and in silico evaluation. Computational protein modeling was accomplished for the identified mutation.
Results:
MODY3 was confirmed in two large families by detecting a mutation (p.G253E) in coding regions of HNF1A. Compound heterozygous state for two common variants in HNF1A (p.I27 L and p.S487N) was detected in affected members of 5 families, and in one family, a rare benign variant in the coding sequence for Kozak sequence was detected. Two new nonpathogenic variants were found in noncoding regions of HNF1A.
Conclusion:
It seems that HNF1A mutations are a common cause of MODY in Iranian diabetic patients. Identified common variants in heterozygous state can cause diabetes Type II in earlier ages. The role of rare variant rs3455720 is unknown, and more investigation is needed to uncover the function of this variant.
Keywords: Gene, hepatocyte nuclear factor 1 alpha, Iran, maturity-onset diabetes of the young 3, mutatio