Title |
Role of diffuse low-level heteroplasmy of mitochondrial DNA in Alzheimer’s disease neurodegeneration
|
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Published in |
Frontiers in Aging Neuroscience, July 2015
|
DOI | 10.3389/fnagi.2015.00142 |
Pubmed ID | |
Authors |
Tiziana Casoli, Liana Spazzafumo, Giuseppina Di Stefano, Fiorenzo Conti |
Abstract |
Alzheimer's disease (AD) is the most common form of dementia in the elderly. The vast majority of cases are not linked to a known genetic defect and the molecular mechanisms underlying AD pathogenesis are still elusive. Evidence suggests that mitochondrial dysfunction is a prominent feature of the disease, and that mitochondrial DNA (mtDNA) alterations may represent a possible starting point of the pathophysiological cascade. Although specific mtDNA alterations have been reported in AD patients both in brain and peripheral tissues, such as D-loop mutations, 4977-bp deletion and poly-C tract D310 cytosine insertion, a generalized subtle allelic shift has also been demonstrated. This shift is significant for a few nucleotide positions (nps), but it is also detectable for most nps, although at a lower level. As single allelic substitutions can unlikely be determinant, it is proposed that the combination of all of them could lead to a less efficient oxidative phosphorylation, thus influencing AD development and course. |
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 31 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 5 | 16% |
Student > Bachelor | 4 | 13% |
Researcher | 4 | 13% |
Other | 3 | 10% |
Student > Postgraduate | 3 | 10% |
Other | 5 | 16% |
Unknown | 7 | 23% |
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Medicine and Dentistry | 6 | 19% |
Neuroscience | 5 | 16% |
Agricultural and Biological Sciences | 4 | 13% |
Chemical Engineering | 1 | 3% |
Other | 2 | 6% |
Unknown | 7 | 23% |