Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes

Diabetes Res Clin Pract. 2014 Mar;103(3):e49-52. doi: 10.1016/j.diabres.2013.12.015. Epub 2014 Jan 5.

Abstract

Type 2 diabetes (T2D), being a complex, multi factorial metabolic disorder, its chronic complications development remains puzzled. In this case report, we describe four novel mutations in Cyt b, ATPase 8, ND1 and ND5 genes' synergistic activity as plausible factors for the secondary complications of a patient with chronic T2D.

Keywords: Micro vascular complications; Mitochondrial mutations; Peripheral neuropathy; Type 2 diabetes.

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / genetics*
  • Electron Transport Complex I / genetics*
  • Female
  • Humans
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Mutation / genetics*
  • NADH Dehydrogenase / genetics*
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology
  • Prognosis

Substances

  • DNA, Mitochondrial
  • Mitochondrial Proteins
  • NADH Dehydrogenase
  • NADH dehydrogenase subunit 1, human
  • ND5 protein, human
  • ATP synthase 8, human
  • Mitochondrial Proton-Translocating ATPases
  • Electron Transport Complex I