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de Laat P, Koene S, Heuvel LP, et al. Inheritance of the m.3243A>G mutation. JIMD Rep. 2012;8:47-50doi: 10.1007/8904_2012_159.
de Laat, P., Koene, S., Heuvel, L. P., Rodenburg, R. J., Janssen, M. C., & Smeitink, J. A. (2013). Inheritance of the m.3243A>G mutation. JIMD reports, 847-50. https://doi.org/10.1007/8904_2012_159
de Laat, Paul, et al. "Inheritance of the m.3243A>G mutation." JIMD reports vol. 8 (2013): 47-50. doi: https://doi.org/10.1007/8904_2012_159
de Laat P, Koene S, Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA. Inheritance of the m.3243A>G mutation. JIMD Rep. 2013;8:47-50. doi: 10.1007/8904_2012_159. Epub 2012 Jul 06. PMID: 23430519; PMCID: PMC3565654.
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JIMD Rep. 2013;8:47-50. doi: 10.1007/8904_2012_159. Epub 2012 Jul 06.

Inheritance of the m.3243A>G mutation.

JIMD reports

Paul de Laat, Saskia Koene, Lambert P W J Vd Heuvel, Richard J T Rodenburg, Mirian C H Janssen, Jan A M Smeitink

Affiliations

  1. Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, [email protected].

PMID: 23430519 PMCID: PMC3565654 DOI: 10.1007/8904_2012_159

Abstract

The m.3243A>G is the most prevalent pathogenic mtDNA mutation but little is known about its inheritance. We studied 34 families containing 56 mother-child relations and 82 intersibling relations to investigate its transmission. We found a significant correlation between mother and child heteroplasmy levels (r = 0.679, p < 0.001). In mothers with a heteroplasmy level of below 25% we found 30% offspring without detectable mutation, while in mothers with a heteroplasmy level of above 25%, 100% of the offspring showed the m.3243A>G mutation. Heteroplasmy levels between siblings also correlated (r = 0.512, p < ;0.001), but had limited extra predictive value because of outliers. These new data on inheritance of the m.3243A>G mutation might be of value in counseling patients and preventing transmission of the mutation.

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