Aims 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.
Keywords Alzheimer’s disease - Genetics - Mutations -
LRRK2