| Do mitochondrial mutations cause recurrent miscarriage? | |
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MedLine Citation:
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PMID: 19297417 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The cause of recurrent miscarriage (RM) can be identified in approximately 50% of cases, whereas in others, unknown genetic factors are actively being sought. As mitochondrial functions, and therefore also the mitochondrial genome [mitochondrial DNA (mtDNA)], have an important role in human development, through ATP production and participation in apoptosis, we aimed to study the role of mtDNA variations in RM. We screened 48 women with RM and 48 age-matched control women for heteroplasmic mitochondrial mutations using denaturing high performance liquid chromatography, a sensitive method that can detect approximately 5% heteroplasmy. As a result, we detected a heteroplasmic mtDNA variation in 13 RM women (27%) and in 9 control women (19%). Seven synonymous and five non-synonymous changes were detected within coding regions. In addition, seven heteroplasmic variations were detected within the non-coding control region. We were also able to show the presence of the variations in eight placental samples from three heteroplasmic women. In three of these cases, the proportion of variant mtDNA was higher in the placenta compared with that in the mother. We conclude that our sensitive methodology revealed a higher frequency of samples with heteroplasmic variations than expected in women with both RM and controls. However, no apparent increased frequency of heteroplasmic mtDNA variations or amounts of aberrant mtDNA was detected in the RM group. In addition, none of the detected variations were previously known to be pathogenic and therefore they are an unlikely cause of miscarriage. |
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Authors:
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Milja Kaare; Alexandra Götz; Veli-Matti Ulander; Sarah Ariansen; Risto Kaaja; Anu Suomalainen; Kristiina Aittomäki |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-03-18 |
Journal Detail:
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Title: Molecular human reproduction Volume: 15 ISSN: 1460-2407 ISO Abbreviation: Mol. Hum. Reprod. Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-04-08 Completed Date: 2009-04-17 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9513710 Medline TA: Mol Hum Reprod Country: England |
Other Details:
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Languages: eng Pagination: 295-300 Citation Subset: IM |
Affiliation:
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Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland. milja.kaare@helsinki.fi |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Habitual
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genetics* Adolescent Adult Chromatography, High Pressure Liquid DNA Mutational Analysis* DNA, Mitochondrial / analysis, genetics* Female Genetic Testing Genome, Mitochondrial* Humans Mutation* Pregnancy Young Adult |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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