Rajendra Prasad
Postgraduate Institute of Medical Education and Research,
Chandigarh
India
Case Report
Identification of a Novel -99A>T IAPP Gene Mutation in A North Indian Type-2-Diabetes Patient with Hypertension
Author(s): Jayagandan Jayamani, Rajendra Prasad and Anil BhansaliJayagandan Jayamani, Rajendra Prasad and Anil Bhansali
Several studies conducted worldwide supports that mutations in activator domains of promoter region (Ë—91 to Ë—222 bp) of IAPP gene can lead to increased Islet amyloid deposition, ß cells destruction and insulin resistance. Considering it a pilot study was conducted to identify amylin promoter mutation and its association in patients diagnosed having both type-2-diabetes and hypertension. Strikingly we identified a novel −99A>T mutation in a 35 year old female patient with BMI of 26.4 kg/m² and family history of diabetes and hypertension. To elucidate whether the identified mutation disrupts the binding site for transcription factors, potential binding sites in the vicinity of this mutation was screened for using the TESS master (Transcription Element Search System) a computer program on TRANSFAC, EMBL, CBIL databases. This −99A>.. View More»
