The heteroplasmic 15059G>A mutation in the mitochondrial cytochrome b gene and essential hypertension in type 2 diabetes

Diabetes Metab Syndr. 2012 Jul-Sep;6(3):150-6. doi: 10.1016/j.dsx.2012.09.005. Epub 2012 Oct 22.


Aim: The long-term stress of high blood pressure levels increases the risk of a variety of macro- and microvascular complications of type 2 diabetes (T2D). The etiology of essential hypertension (EH) has been explored in depth, but the pathophysiology is multifactorial, complex, and poorly understood. Recent findings showed a role of inherited mutations in mitochondrial DNA (mtDNA) in maternally inherited forms of hypertension. However, an impact of somatic mtDNA mutations in the development of EH is significantly less investigated. In this study, we examined whether the level of heteroplasmy for the 15059G>A mutation in the mitochondrial cytochrome b gene is associated with EH in T2D.

Patients and methods: The heteroplasmy level in mtDNA isolated from blood of 189 diabetic participants randomly selected from general population (124 of whom had EH) was quantified using a real-time PCR.

Results: The 15059G>A heteroplasmy exceeding 39% was found to be significantly associated with a higher risk of EH (odds ratio 1.96; P (Fisher) 0.032).

Conclusion: There is the first evidence reporting association between the mtDNA 15059G>A mutation heteroplasmy and EH in T2D.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cytochromes b / genetics*
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus, Type 2 / epidemiology
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / physiopathology
  • Diabetic Angiopathies / epidemiology
  • Diabetic Angiopathies / genetics*
  • Diabetic Angiopathies / physiopathology
  • Female
  • Humans
  • Hypertension / epidemiology
  • Hypertension / genetics*
  • Hypertension / physiopathology
  • Male
  • Middle Aged
  • Moscow / epidemiology
  • Mutation*
  • Oxidative Stress / genetics*
  • Pedigree
  • Phenotype
  • Risk Factors


  • DNA, Mitochondrial
  • Cytochromes b