Effect of rs3910105 in the Synuclein Gene on Dopamine Transporter Availability in Healthy Subjects
| Autor: | Eun-Joo Kim, Jae Meen Lee, Ju Won Seok, Seong Jang Kim, In Joo Kim, Kyoungjune Pak, Myung Jun Lee, Hyun Nam, Youngduk Seo |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Genotype Caudate nucleus Gene Expression Single-nucleotide polymorphism Polymorphism Single Nucleotide 03 medical and health sciences Exon Medical Imaging 0302 clinical medicine synucleins Internal medicine mental disorders medicine Humans Cerebrospinal Fluid Dopamine transporter Tomography Emission-Computed Single-Photon Dopamine Plasma Membrane Transport Proteins biology single-photon emission computed tomography Putamen biomarkers General Medicine Middle Aged Healthy Volunteers 030104 developmental biology Endocrinology nervous system alpha-Synuclein biology.protein Synuclein Population study Female Original Article 030217 neurology & neurosurgery Tropanes |
| Zdroj: | Yonsei Medical Journal |
| ISSN: | 1976-2437 0513-5796 |
| Popis: | Purpose The present study investigated associations between dopamine transporter (DAT) availability and α-synuclein levels in cerebrospinal fluid, as well as synuclein gene (SNCA) transcripts, and the effect of single nucleotide polymorphism of SNCA on DAT availability in healthy subjects. Materials and Methods The study population comprised healthy controls who underwent 123I-FP-CIT single-photon emission computed tomography screening. Five SNCA probes were used to target the boundaries of exon 3 and exon 4 (SNCA-E3E4), transcripts with a long 3′UTR region (SNCA-3UTR-1, SNCA-3UTR-2), transcripts that skip exon 5 (SNCA-E4E6), and the rare short transcript isoforms that comprise exons 1–4 (SNCA-007). Results In total, 123 healthy subjects (male 75, female 48) were included in this study. DAT availability in the caudate nucleus (p=0.0661) and putamen (p=0.0739) tended to differ according to rs3910105 genotype. In post-hoc analysis, DAT availability in the putamen was lower in subjects of TT genotype than those of CC/CT (p=0.0317). DAT availability in the caudate nucleus also showed a trend similar to that in the putamen (p=0.0597). Subjects of CT genotype with rs3910105 showed negative correlations with DAT availability in the putamen with SNCA-E3E4 (p=0.037, rho=−0.277), and SNCA-E4E6 (p=0.042, rho=−0.270), but not those of CC/TT genotypes. Conclusion This is the first study to investigate the association of rs3910105 in SNCA with DAT availability. rs3910105 had an effect on DAT availability, and the correlation between DAT availability and SNCA transcripts were significant in CT genotypes of rs3910105. |
| Databáze: | OpenAIRE |
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