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Titolo:
Low mutational burden of individual acquired mitochondrial DNA mutations in brain
Autore:
Simon, DK; Lin, MT; Ahn, CH; Liu, GJ; Gibson, GE; Beal, MF; Johns, DR;
Indirizzi:
Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02115 USA Beth Israel Deaconess Med Ctr Boston MA USA 02115 l, Boston, MA 02115 USA Beth Israel Deaconess Med Ctr, Dept Ophthalmol, Boston, MA 02115 USA Beth Israel Deaconess Med Ctr Boston MA USA 02115 l, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 vard Univ, Sch Med, Boston, MA 02115 USA Cornell Univ, Weill Med Coll, Dept Neurol & Neurosci, New York, NY 10021 USA Cornell Univ New York NY USA 10021 rol & Neurosci, New York, NY 10021 USA
Titolo Testata:
GENOMICS
fascicolo: 1, volume: 73, anno: 2001,
pagine: 113 - 116
SICI:
0888-7543(20010401)73:1<113:LMBOIA>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
AGING HUMAN TISSUES; OXIDATIVE DAMAGE; PARKINSONS-DISEASE; ALZHEIMERS-DISEASE; POINT MUTATIONS; COMPLEX-I; ACCUMULATION; DELETIONS; INCREASE; GENOME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Simon, DK Beth Israel Deaconess Med Ctr, Dept Neurol, 77 Ave Louis Pasteur,HIM-847, Boston, MA 02115 USA Beth Israel Deaconess Med Ctr 77 Ave Louis Pasteur,HIM-847 Boston MA USA 02115
Citazione:
D.K. Simon et al., "Low mutational burden of individual acquired mitochondrial DNA mutations in brain", GENOMICS, 73(1), 2001, pp. 113-116

Abstract

Neurons may be particularly susceptible to oxidative damage, which has been proposed to induce somatic mutations, particularly in mitochondrial DNA (mtDNA). Therefore, acquired mtDNA mutations might preferentially accumulatein the brain and could play a role in aging and neurodegenerative disorders. Recently, a somatic T to G mtDNA mutation at noncoding nucleotide position 414 was reported in fibroblasts specifically from elderly subjects, withmutational burdens of up to 50%. We screened for this mutation in brain-derived mtDNA from 8 Alzheimer's disease patients, 27 Parkinson's disease patients, 4 multiple system atrophy patients, and 44 controls using up to three RFLP analyses, A total of 73 of these subjects were over the age of 65. The 414 mutation was absent in all cases. Next, individual mtDNA fragments from 6 elderly subjects were cloned, and a total of 70 clones were sequenced. The 414 mutation was absent in all clones, though occasional sequence variations were identified at other sites in single clones. The 414 mutation also was absent in blood (n = 6) and fibroblasts (n = 11) from elderly subjects. Our data suggest that it is rare for any one particular acquired mtDNAmutation to reach levels in the brain that are functionally significant. This does not exclude the possibility that the cumulative burden of multiple, individually rare, acquired mutations impairs mitochondrial function. (C)2001 Academic Press.

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Documento generato il 20/01/20 alle ore 10:19:53