Role of TOMM40 rs10524523 Polymorphism in Onset of Alzheimer's Disease Caused by the PSEN1 M146L Mutation

Article type: Short Communication

Authors: Bernardi, Livia^{; 1} | Gallo, Maura^{; 1} | Anfossi, Maria | Conidi, Maria Elena | Colao, Rosanna | Puccio, Gianfranco | Curcio, Sabrina A.M. | Frangipane, Francesca | Clodomiro, Alessandra | Mirabelli, Maria | Vasso, Franca | Smirne, Nicoletta | Di Lorenzo, Raffaele | Maletta, Raffaele | Bruni, Amalia C.^{; *}

Affiliations: Regional Neurogenetic Centre, ASP CZ, Lamezia Terme (CZ), Italy

Correspondence: [*] Correspondence to: Dr. Amalia C. Bruni, Centro Regionale di Neurogenetica, ASP Catanzaro Viale A. Perugini, 88046 Lamezia Terme (CZ), Italy. Tel.: +39 0968 208080; Fax: +39 0968 208032; E-mail: bruni@arn.it.

Note: [1] These authors contributed equally to this work.

Abstract: We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE. APOE33/TOMM40VL/VL patients showed a tendency for an earlier age at onset compared to those with APOE33/TOMM40VL/S and APOE33/TOMM40S/S. Moreover, TOMM40VL/VL patients had better memory performance, when compared to TOMM40S/S but not to TOMM40VL/S patients, so there is not a dose-dependent effect. Our results suggest that, in the presence of the PSEN1 mutation, the slight difference in age of onset together with memory performance could be influenced by TOMM40 genotypes.

Keywords: Familial Alzheimer's disease, large kindreds, onset variability, performance on memory, PSEN1 M146L mutation, TOMM40 rs10524523 genotype

DOI: 10.3233/JAD-130119

Journal: Journal of Alzheimer's Disease, vol. 37, no. 2, pp. 285-289, 2013