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  • The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

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Original article
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading
  1. K J Livesey1,8,
  2. V L C Wimhurst1,
  3. K Carter2,
  4. M Worwood2,
  5. E Cadet3,
  6. J Rochette3,
  7. A G Roberts4,
  8. J J Pointon1,
  9. A T Merryweather-Clarke1,
  10. M L Bassett5,
  11. A-M Jouanolle6,
  12. A Mosser6,
  13. V David6,
  14. J Poulton7,
  15. K J H Robson1
  1. 1MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK
  2. 2Department of Haematology, University of Wales College of Medicine, Cardiff, UK
  3. 3Génétique Médicale et UPRES EA 2629, CHU-Université Jules Verne de Picardie, Amiens, France
  4. 4Department of Medical Biochemistry, University of Wales College of Medicine, Cardiff, UK
  5. 5Gastroenterology Unit, Canberra Hospital, Woden, Australia
  6. 6Département de Biochimie et Biologie Moléculaire et UMR6061 CNRS, Rennes cédex, France
  7. 7Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Oxford, UK
  8. 8The Genetics Laboratory, Churchill Hospital, Oxford, UK
  1. Correspondence to:
 Prof. J Poulton
 Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk

Abstract

Background:Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the HFE gene. They have variable expression of iron overload and present with a variety of complications, including liver disease, diabetes, arthropathy, fatigue, and cardiomyopathy. The mitochondrial 16189 variant is associated with diabetes, dilated cardiomyopathy, and low body fat at birth, and might contribute to genetic predisposition in further multifactorial disorders. The objective of this study was to determine the frequency of the 16189 variant in a range of patients with haemochromatosis, who had mutations in the HFE gene.

Methods:Blood DNA was analysed for the presence of the 16189 variant in British, French, and Australian C282Y homozygotes and controls, with known iron status, and in birth cohorts.

Results:The frequency of the mitochondrial 16189 variant was found to be elevated in individuals with haemochromatosis who were homozygous for the C282Y allele, compared with population controls and with C282Y homozygotes who were asymptomatic (42/292 (14.4%); 102/1186 (8.6%) (p  =  0.003); and 2/64 (3.1%) (p  =  0.023), respectively).

Conclusions:Iron loading in C282Y homozygotes with HH was exacerbated by the presence of the mitochondrial 16189 variant.

  • HH, hereditary haemochromatosis
  • haemochromatosis
  • C282Y homozygotes
  • mtDNA 16189 variant
  • disease penetrance
  • phenotype/genotype

https://doi.org/10.1136/jmg.2003.008805

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