Clinical Heterogeneity, Tissue Distribution, and Intergenerational Segregation of mtDNA Mutation A3243G

Tissue distribution and segregation and the functional consequences of heteroplasmic mitochondrial DNA mutation A3243G were studied in 30 carriers. The mutation load in hair follicles was higher in 20 patients with a broad spectrum of clinical symptoms than in 10 nonaffected carriers. The onset of t...

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Published in:Toxicology mechanisms and methods 2004, Vol.14 (1-2), p.79-84
Main Authors: Tesarova, M., Hansikova, H., Kytnarova, J., Houstkova, H., Bohm, M., Cerna, L., Zeman, J., Houstek, J.
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Intergenerational transmission
mtDNA mutation A3243G
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container_end_page 84
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container_title Toxicology mechanisms and methods
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creator Tesarova, M.
Hansikova, H.
Kytnarova, J.
Houstkova, H.
Bohm, M.
Cerna, L.
Zeman, J.
Houstek, J.
description Tissue distribution and segregation and the functional consequences of heteroplasmic mitochondrial DNA mutation A3243G were studied in 30 carriers. The mutation load in hair follicles was higher in 20 patients with a broad spectrum of clinical symptoms than in 10 nonaffected carriers. The onset of the disease negatively correlated with the mutation load in blood and muscle. The activities of respiratory chain complexes in isolated muscle mitochondria did not decrease in all patients and were normal in isolated platelets. Changes in the heteroplasmy level between pairs of mothers and offspring suggest that random genetic drift is the mechanism associated with the intergenerational transmission of the A3243G mutation. In conclusion, detailed clinical investigations and mitochondrial DNA analyses in several tissues are of the highest diagnostic value for the prognosis of the disease in carriers of the A3243G mutation.
doi_str_mv 10.1080/15376520490257527
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subjects Intergenerational transmission
mtDNA mutation A3243G
title Clinical Heterogeneity, Tissue Distribution, and Intergenerational Segregation of mtDNA Mutation A3243G
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