No association between the LRRK2 G2019S mutation and Alzheimer's disease in Italy.
OBJECTIVE
Investigation of the leucine-rich repeat kinase 2 (LRRK2) gene in late-onset Alzheimer's disease (AD) patients to screen for the G2019S mutation, which is common in Parkinson's cases.


METHODS
High-resolution melting analysis (HRMA) was used to screen a large sample of patients. The target sequence was amplified by standard PCR in the presence of an intercalating fluorescent dye. Heterozygotes were easily identified because the heteroduplexes produced changed the shape of the melting curve.


RESULTS
In accordance to previous studies, we did not detect the G2019S mutation in any of the 769 Italian AD patients under study.


CONCLUSIONS
HMRA allowed us to rapidly characterize a large number of samples for the LRRK2 G2019S mutation, which results as absent in a large AD data set.
Tedde
Andrea
A
Neurogenetics Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini 6, Florence 50139, Italy. tedde@unifi.it
Bagnoli
Silvia
S
Cellini
Elena
E
Nacmias
Benedetta
B
Piacentini
Silvia
S
Sorbi
Sandro
S
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007558:Italy; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases