Salivary mtDNA copy number: index of aerobic efficiency? (705.6)
نویسندگان
چکیده
منابع مشابه
Author Response: Increased mtDNA Copy Number Protects Against LHON.
Although we appreciate the major interest of Josef Finsterer and Sinda Zarrouk-Mahjoub in our recent publication in Investigative Ophthalmology and Visual Science entitled ‘‘High Mitochondrial DNA Copy Number Is a Protective Factor from Vision Loss in Heteroplasmic Leber’s Hereditary Optic Neuropathy (LHON),’’ we wish to clarify two issues. First, in our published studies, our findings strongly...
متن کاملIncreased mtDNA Copy Number Does Not Protect Against LHON.
We read with interest the article by Bianco et al. about the mitochondrial DNA (mtDNA) copy number in 12 patients with Leber’s hereditary optic neuropathy (LHON) and 18 asymptomatic carriers of the primary LHON mutations m.11778G>A and m.3460G>A, respectively. The authors interpreted the increased mtDNA copy number in lymphocytes as a protective effect in LHON mutation carriers. We have the fol...
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Mitochondrial DNA (mtDNA) copy number regulation is altered in several human mtDNA-mutation diseases and it is also important in a variety of normal physiological processes. Mitochondrial transcription factor A (TFAM) is essential for human mtDNA transcription and we demonstrate here that it is also a key regulator of mtDNA copy number. We initially performed in vitro transcription studies and ...
متن کاملTwinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
Mechanisms of mitochondrial DNA (mtDNA) maintenance have recently gained wide interest owing to their role in inherited diseases as well as in aging. Twinkle is a new mitochondrial 5'-3' DNA helicase, defects of which we have previously shown to underlie a mitochondrial disease, progressive external ophthalmoplegia with multiple mtDNA deletions. Mouse Twinkle is highly similar to the human coun...
متن کاملRearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression.
Mitochondria from patients with Kearns-Sayre syndrome harboring large-scale rearrangements of human mitochondrial DNA (mtDNA; both partial deletions and a partial duplication) were introduced into human cells lacking endogenous mtDNA. Cytoplasmic hybrids containing 100% wild-type mtDNA, 100% mtDNA with partial duplications, and 100% mtDNA with partial deletions were isolated and characterized. ...
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ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2014
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.28.1_supplement.705.6