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Inheritance of the m.3243A>G mutation
- Source :
- Jimd Reports, 8, pp. 47-50, Jimd Reports, 8, 47-50
- Publication Year :
- 2013
-
Abstract
- Item does not contain fulltext 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.
- Subjects :
- Genomic disorders and inherited multi-system disorders [IGMD 3]
Renal disorder Membrane transport and intracellular motility [IGMD 9]
Mitochondrial medicine [IGMD 8]
Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3]
Mitochondrial medicine Energy and redox metabolism [IGMD 8]
Renal disorder Energy and redox metabolism [IGMD 9]
Health aging / healthy living Cardiovascular diseases [IGMD 5]
Subjects
Details
- ISSN :
- 21928304
- Database :
- OpenAIRE
- Journal :
- Jimd Reports, 8, pp. 47-50, Jimd Reports, 8, 47-50
- Accession number :
- edsair.dedup.wf.001..f7a929f3ccd50b7c6de7d9c6e87c6de7