Biased Homozygous Haplotypes Across the Human Caveolin 1 Upstream Purine Complex in Parkinson’s Disease

• Published in: Journal of molecular neuroscience 2013-10, Vol.51 (2), p.389-393
• Main Authors: Darvish, Hossein, Heidari, Abolfazl, Hosseinkhani, Saman, Movafagh, Abolfazl, Khaligh, Ali, Jamshidi, Javad, Noorollahi-Moghaddam, Hamid, Heidari-Rostami, Hamid Reza, Karkheiran, Siamak, Shahidi, Gholam-Ali, Togha, Mansoureh, Paknejad, Seyed Mohammad Hassan, Ashrafian, Hossein, Abdi, Siamak, Firouzabadi, Saghar Ghasemi, Jamaldini, Seyed Hamid, Ohadi, Mina
• Format: Article
• Language: English
• Subjects: Adult; Aged; Alzheimer's disease; Biochemistry; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; Caveolin 1 - genetics; Cell Biology; Cell Line; Dopamine; Female; Gene expression; Haplotypes; Homozygote; Hospitals; Humans; Male; Middle Aged; Neurochemistry; Neurology; Neurosciences; Parkinson Disease - genetics; Parkinson's disease; Proteomics; Purines - chemistry; Regulatory Sequences, Nucleic Acid - genetics; Signal transduction
• ISSN: 0895-8696; 1559-1166
• DOI: 10.1007/s12031-013-0021-9

The alpha-synuclein–caveolin 1 axis is suggested to be of role in the pathogenesis of Parkinson’s disease in cell line models. The objective of this study was to analyze the homozygous haplotype compartment of the human caveolin 1 gene upstream purine complex in patients afflicted with Parkinson’s disease. This complex was screened in patients with Parkinson’s disease ( n  = 141) and compared with a group of controls ( n  = 760) using polymerase chain reaction and sequencing. The expression activity of the homozygous haplotypes was then examined using luciferase Dual-Glo system in human neuronal cell line, LAN-5. Six haplotypes were found to be homozygous in the patients, and not in the control pool (Fisher exact p