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01-09-2005 | Letter to the Editor

Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?

Authors: Atle Melberg, Inger Nennesmo, Ali-Reza Moslemi, Gittan Kollberg, Petri Luoma, Anu Suomalainen, Elisabeth Holme, Anders Oldfors

Published in: Acta Neuropathologica | Issue 3/2005

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]. …

Calabrese V, Scapagnini G, Giuffrida Stella AM, Bates TE, Clark JB (2001) Mitochondrial involvement in brain function and dysfunction: relevance to aging, neurodegenerative disorders and longevity. Neurochem Res 26:739–764CrossRefPubMed

Jorm AF, Korten AE, Henderson AS (1987) The prevalence of dementia: a quantitative integration of the literature. Acta Psychiatr Scand 76:465–479PubMed

Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A (2004) Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364:875–882CrossRefPubMed

Moslemi AR, Melberg A, Holme E, Oldfors A (1996) Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Ann Neurol 40:707–713

Moslemi AR, Melberg A, Holme E, Oldfors A (1999) Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. Neurology 53:79–84PubMed

Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly YM, Gidlof S, Oldfors A, Wibom R, Tornell J, Jacobs HT, Larsson NG (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429:417–423CrossRefPubMed

Title: Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
Authors: Atle Melberg
Inger Nennesmo
Ali-Reza Moslemi
Gittan Kollberg
Petri Luoma
Anu Suomalainen
Elisabeth Holme
Anders Oldfors
Publication date: 01-09-2005
Publisher: Springer-Verlag
Published in: Acta Neuropathologica / Issue 3/2005
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-005-1047-z

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Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?

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