PT - JOURNAL ARTICLE AU - Saraswathy, Radha AU - Anand, Sudhaa AU - Kunnumpurath, Sree Kumar AU - Kurian, R. Jones AU - Kaye, Alan David AU - Vadivelu, Nalini TI - Chromosomal Aberrations and Exon 1 Mutation in the AKR1B1 Gene in Patients with Diabetic Neuropathy DP - 2014 Sep 21 TA - Ochsner Journal PG - 339--342 VI - 14 IP - 3 4099 - http://www.ochsnerjournal.org/content/14/3/339.short 4100 - http://www.ochsnerjournal.org/content/14/3/339.full SO - Ochsner J2014 Sep 21; 14 AB - Background Recent decades have seen an increase in our understanding of a number of pathophysiological processes associated with type 2 diabetes mellitus (DM). Despite increases in understanding and treatment options, diabetic neuropathy remains a significant problem and is associated with tremendous morbidity and mortality. In this regard, oxidative DNA damage is postulated to play a role in diabetes-mediated neuropathic pathogenesis.Methods In this pilot investigation, we studied the extent of chromosomal damage utilizing chromosomal aberration (CA) assay in cultured lymphocytes of patients in 3 subgroups: patients with diabetic neuropathy, patients with type 2 DM and no neuropathy, and a control group.Results The patients with diabetic neuropathy showed a statistically significantly higher rate of CA (P<0.001, 0.086 ± 0.04) compared to the DM patients without neuropathy (0.03 ± 0.02). Samples from subjects with diabetic neuropathy were evaluated to check for mutations in the AKR1B1 gene (exon 1). A significant number of mutations appeared after DNA sequencing within the AKR1B1 gene. Of 50 diabetic neuropathy patient samples analyzed, 10 revealed mutations.Conclusion Our results suggest that painful diabetic neuropathy is a condition with enhanced genomic instability characterized by increased CA and possible mutations. Exon 1 of the gene AKR1B1 showed significant mutations in patients with painful diabetic neuropathy.