Calreticulin novel mutations in type 2 diabetes mellitus

摘要: Imbalance in Ca2+ concentration and dysfunction of the chaperone system are linked with type 2 diabetes mellitus (T2DM). Two-dimensional protein profiling pancreatic beta cells T2DM subjects has shown that binding chaperone, calreticulin (CALR), plays a role pathophysiology this disease. In case/control study, we performed mutation screening promoter region, 9 exons, exon/intron boundaries CALR by PCR-SSCP sequencing 120 patients 530 controls. Two novel mutations an estimated frequency 0.0005 were detected patients, which absent control pool (Mid P exact T transversion intron conserved polypurine tract at IVSII-142. The second was 9-bp deletion highly exon encompassing amino acids 397–399. To our knowledge, current study reports for first time, gene occur T2DM. Studying larger groups as well other genes is warranted to further elucidate low causation complex disorder.