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Biochemical studies of poly t variants in the alzheimer's disease associated tomm40 gene
Stockholm University, Faculty of Science, Department of Biochemistry and Biophysics.
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2012 (English)In: Journal of Alzheimer's Disease, ISSN 1387-2877, Vol. 31, no 3, 527-536 p.Article in journal (Refereed) Published
Abstract [en]

The apolipoprotein E (APOE) gene remains the most strongly established risk factor for late onset Alzheimer's disease (LOAD). Recently the gene, TOMM40, which is in linkage disequilibrium with APOE, was identified to be associated with LOAD in genome-wide association studies. One of the identified polymorphisms in TOMM40 is rs10524523, which is located in intron 6 and composed of thymidine repeats varying between 14 to 36 base-pairs in length. Reported results are contradictory in regard to the very long poly-T variant that has been associated with both increased and decreased risk of LOAD. Our study aimed to elucidate the functional implication of rs10524523 in an in vitro model of human fibroblast cells obtained from cognitively healthy APOE epsilon 3/epsilon 4 carriers harboring very long or short poly-T variants coupled to their APOE epsilon 3 allele. We have studied (i) expression levels of TOM40 protein and mRNA, (ii) TOM40 mRNA splicing, and (iii) mitochondrial function and morphology; and we have found no significant differences in regards to very long or short poly-T variant.

Place, publisher, year, edition, pages
2012. Vol. 31, no 3, 527-536 p.
Keyword [en]
Human fibroblast cell line, late-onset Alzheimer's disease (LOAD), mitochondria, TOMM40
National Category
Biochemistry and Molecular Biology
URN: urn:nbn:se:su:diva-81696DOI: 10.3233/JAD-2012-120580ISI: 000308197000006OAI: diva2:563845


Available from: 2012-10-31 Created: 2012-10-30 Last updated: 2012-10-31Bibliographically approved

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Pinho, Catarina MoreiraGlaser, Elzbieta
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