The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
J Med Genet
; 41(1): 6-10, 2004 Jan.
Article
em En
| MEDLINE
| ID: mdl-14729817
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Substituição de Aminoácidos
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Hemocromatose
/
Homozigoto
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Mutação
Tipo de estudo:
Clinical_trials
/
Etiology_studies
/
Incidence_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adult
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Aged
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Aged80
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Humans
/
Middle aged
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Reino Unido