Letter to the Editor

Exp Neurobiol 2015; 24(2): 173-175

Published online June 30, 2015

© The Korean Society for Brain and Neural Sciences

Hypothesis: Somatic Mosaicism and Parkinson Disease

Perandones C1*, Pellene LA2, Giugni JC2, Calvo DS2, RainaGB2, Cuevas SM2, Mata IF3, Zabetian CP3, Caputo M4,Corach D4, Micheli FE2 and Radrizzani M5

1Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas, University of Buenos Aires, Ciudad Autónoma de Buenos Aires,C1120AAR, Argentina, National Agency of Laboratories and Health Institutes of Argentina, (ANLIS) Dr. Carlos G. Malbrán, Ciudad Autónoma de Buenos Aires, 1281, Argentina, 2Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas, University of Buenos Aires, Ciudad Autónoma de Buenos Aires,C1120AAR, Argentina, 3University of Washington and VA Puget Sound Health Care System, Seattle,WA 98108-1597, United States, 4Servicio de Huellas Digitales Genéticas, School of Pharmacy and Biochemistry, University of Buenos Aires, Ciudad Autónoma de Buenos Aires, 1113, Argentina, 5Laboratory of Neuro and Molecular Cytogenetic (CONICET), School of Sciences and Technology, CESyMA, National University of San Martin, Buenos Aires, 1650, Argentina

Correspondence to: *To whom correspondence should be addressed.
TEL: 0054-911 4564 5558, FAX: 0054-11-4580-7296, extension 107

Received: March 13, 2015; Revised: March 24, 2015; Accepted: April 1, 2015


Fig. 1. FISH analysis for Alpha-Synuclein gene. Panel A presents an interphase of a lymphocyte showing the presence of three DNA regions hybridized with probes obtained from BAC (Bacterial Artificial Chromosomes) containing the Alpha-Synuclein gene. Panel B, on the right, shows a metaphase where the chromosomes carrying the Alpha-Synuclein gene can be observed. One of the chromosomes can be seen to be more intense and have a larger region than its homologous pair. Telomere markers (green) do not present noticeable differences. These results suggest that the duplication presents in the same chromosome, near the region where the gene is located.
Fig. 2. Immunohistochemical assays for the detection of alpha-synuclein protein. The figure shows the section of a salivary gland dyed with red fluorescence for neurofilament protein (A), the fluorescent DAPI with the genomic DNA in cell nuclei appears in blue (B) and the alpha-synuclein protein is detected by a monoclonal antibody and developed in green (C). The overlapping of images (D) highlights that the relative intensity of alpha-synuclein is larger on the left side of the gland in the image. The increase is not homogeneous in patients with the amplification of alpha-synuclein in mosaic. A:200×.


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