Erschienen in:
01.09.2005 | Letter to the Editor
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
verfasst von:
Atle Melberg, Inger Nennesmo, Ali-Reza Moslemi, Gittan Kollberg, Petri Luoma, Anu Suomalainen, Elisabeth Holme, Anders Oldfors
Erschienen in:
Acta Neuropathologica
|
Ausgabe 3/2005
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Excerpt
Mitochondrial DNA (mtDNA) with multiple deletions accumulate in ageing, which has formed the basis for a theory that mtDNA mutations may play a role in ageing and degenerative disorders, such as Alzheimer’s disease (AD) [
1,
6]. Autosomal dominant progressive external ophthalmoplegia (adPEO) represents a group of disorders with nuclear genetic heterogeneity [
3] and multiple mtDNA deletions, which are clonally expanded in post-mitotic tissues [
4]. To investigate a possible association between multiple mtDNA deletions and AD, we performed post-mortem morphological, immunohistochemical, and mtDNA studies of the brains of two siblings from a Swedish adPEO family. These patients harbored the mtDNA polymerase gamma (
POLG1) Y955C mutation [
3]. …