title: Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation.
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.
authors.affiliation: Regional Neurogenetic Centre, ASP CZ, Lamezia Terme (CZ), Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Bernardi
authors.forename: Maura
authors.initials: M
authors.lastname: Gallo
authors.forename: Maria
authors.initials: M
authors.lastname: Anfossi
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Conidi
authors.forename: Rosanna
authors.initials: R
authors.lastname: Colao
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Puccio
authors.forename: Sabrina A M
authors.initials: SA
authors.lastname: Curcio
authors.forename: Francesca
authors.initials: F
authors.lastname: Frangipane
authors.forename: Alessandra
authors.initials: A
authors.lastname: Clodomiro
authors.forename: Maria
authors.initials: M
authors.lastname: Mirabelli
authors.forename: Franca
authors.initials: F
authors.lastname: Vasso
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Smirne
authors.forename: Raffaele
authors.initials: R
authors.lastname: Di Lorenzo
authors.forename: Raffaele
authors.initials: R
authors.lastname: Maletta
authors.forename: Amalia C
authors.initials: AC
authors.lastname: Bruni
mesh_terms: D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008569:Memory Disorders / Q000209:etiology / Q000235:genetics; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D011110:Polymorphism, Genetic / Q000235:genetics*; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; C400783:TOMM40 protein, human; D008715:Methionine; D007930:Leucine