| pubmed-article:18674747 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18674747 | lifeskim:mentions | umls-concept:C0683971 | lld:lifeskim |
| pubmed-article:18674747 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18674747 | lifeskim:mentions | umls-concept:C0012929 | lld:lifeskim |
| pubmed-article:18674747 | lifeskim:mentions | umls-concept:C0205214 | lld:lifeskim |
| pubmed-article:18674747 | lifeskim:mentions | umls-concept:C0450254 | lld:lifeskim |
| pubmed-article:18674747 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:18674747 | pubmed:dateCreated | 2008-8-5 | lld:pubmed |
| pubmed-article:18674747 | pubmed:abstractText | Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We determined the frequency of ten mitochondrial point mutations in 3168 neonatal-cord-blood samples from sequential live births, analyzing matched maternal-blood samples to estimate the de novo mutation rate. mtDNA mutations were detected in 15 offspring (0.54%, 95% CI = 0.30-0.89%). Of these live births, 0.00107% (95% CI = 0.00087-0.0127) harbored a mutation not detected in the mother's blood, providing an estimate of the de novo mutation rate. The most common mutation was m.3243A-->G. m.14484T-->C was only found on sub-branches of mtDNA haplogroup J. In conclusion, at least one in 200 healthy humans harbors a pathogenic mtDNA mutation that potentially causes disease in the offspring of female carriers. The exclusive detection of m.14484T-->C on haplogroup J implicates the background mtDNA haplotype in mutagenesis. These findings emphasize the importance of developing new approaches to prevent transmission. | lld:pubmed |
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| pubmed-article:18674747 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:18674747 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:18674747 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18674747 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:18674747 | pubmed:issn | 1537-6605 | lld:pubmed |
| pubmed-article:18674747 | pubmed:author | pubmed-author:ChinneryPatri... | lld:pubmed |
| pubmed-article:18674747 | pubmed:author | pubmed-author:ReltonCarolin... | lld:pubmed |
| pubmed-article:18674747 | pubmed:author | pubmed-author:SamuelsDavid... | lld:pubmed |
| pubmed-article:18674747 | pubmed:author | pubmed-author:EdenJames AJA | lld:pubmed |
| pubmed-article:18674747 | pubmed:author | pubmed-author:ElliottHannah... | lld:pubmed |
| pubmed-article:18674747 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18674747 | pubmed:volume | 83 | lld:pubmed |
| pubmed-article:18674747 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18674747 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18674747 | pubmed:pagination | 254-60 | lld:pubmed |
| pubmed-article:18674747 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:18674747 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18674747 | pubmed:articleTitle | Pathogenic mitochondrial DNA mutations are common in the general population. | lld:pubmed |
| pubmed-article:18674747 | pubmed:affiliation | Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, UK. | lld:pubmed |
| pubmed-article:18674747 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18674747 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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