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Bio Summit & Molecular Biology 2016
October 10-12, 2016
Volume 6, Issue 6(Suppl) J Biotechnol Biomater
ISSN: 2155-952X JBTBM, an open access journal
conferenceseries .com
October 10-12, 2016 Dubai, UAE
2nd World Congress on
Bio Summit & Molecular Biology Expo
Negin Parsamanesh et al., J Biotechnol Biomater 2016, 6:6(Suppl)
Molecular study of intron 2 of calreticulin gene (CALR) in type-2 diabetic patients
Negin Parsamanesh, Hosein Javdani, Ali Farahi and Maryam Valavi
Birjand Medical University, Iran
Type 2 diabetes mellitus (T2DM) is a complex polygenic disease. Genetic factors play major role in the pathogenesis of
T2DM. Calreticulin is a 46 kDCa2+ binding protein and ER chaperon. Calreticulin (CALR) was found in high concentration
in pancreas. Genomic analysis and detection of variants related to type-2 diabetes can help to determination T2DM
pathophysiology and its familial pattern of inheritance. Imbalance in Ca2+ concentration and dysfunction of the chaperone
system are speculated to be linked with type-2 diabetes mellitus (T2DM). Two-dimensional protein profiling of pancreatic beta
cells in T2DM subjects has shown that the Ca2+ binding chaperone, calreticulin (CALR), plays a role in the pathophysiology of
this disease. In a case/control study design, we performed mutation screening of the promoter region, 9 exons and exon/intron
boundaries of CALR by PCR-SSCP and sequencing in 120 patients afflicted with T2DM and 530 controls. Two novel mutations
were detected in T2DM patients, which were absent in the control gene pool (Mid P exact <0.01). The first mutation was a
G>T transversion in intron 2 conserved polypurine tract at IVSII-142. The second mutation was a 9-bp deletion in the highly
conserved exon 9 encompassing amino acids 402-404. Exon 9 encodes the low affinity, high capacity Ca2+ binding domain of
CALR. This case is the first instance of a microdeletion in a gene coding sequence reported in T2DM. To our knowledge, the
current study reports for the first time, CALR gene mutations that co-occur with T2DM.
Biography
Negin Parsamanesh is currently PhD student in Birjand Medical University, Iran