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- Title
Chromosomal Aberrations and Exon 1 Mutation in the AKR1B1 Gene in Patients with Diabetic Neuropathy.
- Authors
Saraswathy, Radha; Anand, Sudhaa; Kunnumpurath, Sree Kumar; Kurian, R. Jones; Kaye, Alan David; Vadivelu, Nalini
- Abstract
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 diabetesmediated 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.
- Subjects
ALLOXAN diabetes; CARBOHYDRATE intolerance; GLYCOSYLATED hemoglobin; GLUCOSE intolerance; ENDOCRINE diseases
- Publication
Ochsner Journal, 2014, Vol 14, Issue 3, p339
- ISSN
1524-5012
- Publication type
Article