Literature DB >> 25249799

Chromosomal Aberrations and Exon 1 Mutation in the AKR1B1 Gene in Patients with Diabetic Neuropathy.

Radha Saraswathy1, Sudhaa Anand1, Sree Kumar Kunnumpurath2, R Jones Kurian3, Alan David Kaye4, Nalini Vadivelu5.   

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 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.

Entities:  

Keywords:  Chromosome aberrations; diabetes mellitus; diabetic neuropathies–painful; exons; mutation

Year:  2014        PMID: 25249799      PMCID: PMC4171791     

Source DB:  PubMed          Journal:  Ochsner J        ISSN: 1524-5012


  12 in total

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2.  Risk factors for diabetic peripheral sensory neuropathy. Results of the Seattle Prospective Diabetic Foot Study.

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Review 5.  Painful diabetic neuropathy: epidemiology, natural history, early diagnosis, and treatment options.

Authors:  Aristidis Veves; Miroslav Backonja; Rayaz A Malik
Journal:  Pain Med       Date:  2008-09       Impact factor: 3.750

6.  Prevalence and risk factors for diabetic neuropathy in an urban south Indian population: the Chennai Urban Rural Epidemiology Study (CURES-55).

Authors:  R Pradeepa; M Rema; J Vignesh; M Deepa; R Deepa; V Mohan
Journal:  Diabet Med       Date:  2008-02-19       Impact factor: 4.359

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Journal:  Diabetes Care       Date:  1998-10       Impact factor: 19.112

8.  Little association of lipid parameters and large sensory nerve fiber function in diabetes mellitus.

Authors:  R E Maser; D C Usher; G S DeCherney
Journal:  J Diabetes Complications       Date:  1996 Jan-Feb       Impact factor: 2.852

Review 9.  Potential mechanisms of neuropathic pain in diabetes.

Authors:  Nigel A Calcutt
Journal:  Int Rev Neurobiol       Date:  2002       Impact factor: 3.230

10.  Lymphocytes of type 2 diabetic women carry a high load of stable chromosomal aberrations: a novel risk factor for disease-related early death.

Authors:  Bernhard O Boehm; Peter Möller; Josef Högel; Bernhard R Winkelmann; Wilfried Renner; Silke Rosinger; Ursula Seelhorst; Britta Wellnitz; Winfried März; Julia Melzner; Silke Brüderlein
Journal:  Diabetes       Date:  2008-07-23       Impact factor: 9.461

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  4 in total

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Journal:  Cell Oncol (Dordr)       Date:  2017-09-19       Impact factor: 6.730

2.  Novel Genetic Actors of Diabetes-Associated Microvascular Complications: Retinopathy, Kidney Disease and Neuropathy.

Authors:  Samaneh Davoudi; Lucia Sobrin
Journal:  Rev Diabet Stud       Date:  2016-01-25

Review 3.  Aldo Keto Reductases AKR1B1 and AKR1B10 in Cancer: Molecular Mechanisms and Signaling Networks.

Authors:  Sreeparna Banerjee
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 4.  Susceptible and Prognostic Genetic Factors Associated with Diabetic Peripheral Neuropathy: A Comprehensive Literature Review.

Authors:  L B L Prabodha; N D Sirisena; V H W Dissanayake
Journal:  Int J Endocrinol       Date:  2018-03-15       Impact factor: 3.257

  4 in total

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