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.
Competing interests: None declared
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Abbreviations
- mtDNA:
-
Mitochondrial DNA
- nDNA:
-
Nuclear DNA
- UEC:
-
Urinary Epithelial Cells
- MELAS:
-
Mitochondrial myopathy, Encephalopathy, Lactate Acidosis, and Stroke-like episodes
- MIDD:
-
Maternally Inherited Diabetes and Deafness
- PGD:
-
Preimplantation Genetic Diagnosis
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Part of this work was supported by the Energy4All foundation and ZonMW.
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Communicated by: Garry Brown
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Key Sentence/Synopsis
In mothers carrying an m.3243A>G mutation with a heteroplasmy level of below 25%, we found that 30% of the offspring were unaffected. This new data on inheritance of the m.3243A>G mutation will be of great help for counseling patients and preventing transmission of the mutation.
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de Laat, P., Koene, S., Heuvel, L.P.W.J.v., Rodenburg, R.J.T., Janssen, M.C.H., Smeitink, J.A.M. (2012). Inheritance of the m.3243A>G mutation. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Case and Research Reports, 2012/5. JIMD Reports, vol 8. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_159
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DOI: https://doi.org/10.1007/8904_2012_159
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