Session Information
Date: Tuesday, September 24, 2019
Session Title: Parkinsonisms and Parkinson-Plus
Session Time: 1:45pm-3:15pm
Location: Agora 3 West, Level 3
Objective: The objective of this study was to evaluate if a single nucleotide polymorphism (SNP) in the amylin sequence is present in patients with Parkinson’s disease.
Background: Amylin is a small and highly amyloidogenic protein secreted from pancreatic beta cells along with insulin, and it regulates gastric emptying and glucose homeostasis. An increase in amylin appears to occur in patients with insulin resistance and it is one of the main factors contributing to its aggregation. But hyper-amylinemia is not only detrimental to pancreatic beta-cells but also, it provokes toxicity in other organs. For instance, amylin deposition has been seen in the heart and kidneys of obese and T2DM patients, and interestingly, in the brain of Alzheimer’s disease patients. Recently, it has been identified a genetic variant within the amylin gene (rs73069071) that modified the effect of cortical amyloid beta on Alzheimer’s disease-related cognitive impairment and temporal lobe atrophy. These data, together with the fact that amylin has also been related to Parkinson’s disease pathophysiology since it interacts with alpha-synuclein promoting in vitro alpha-synuclein amyloid formation, leads us to perform this study.
Method: For this study one thousand subjects were included, five hundred patients with Parkinson’s disease and five hundred neurologically asymptomatic subjects. Genomic DNA from each case was isolated using a commercial kit (Qiagen). DNA quality and quantitation were examined using NanoDrop Spectrophotometer and gel electrophoresis. DNA samples with A260 /A280 and A260 /A230 ratios below 1.8 were discarded or re-extracted. TaqMan Predesigned SNP Genotyping Assays were performed.
Results: We found that this SNP is present in more subjects with Parkinson’s disease than in neurologically asymptomatic subjects.
Conclusion: The relevance of this SNP in the amylin sequence in alpha-synuclein accumulation and its relevance in Parkinson’s disease pathophysiology will be further discussed.
To cite this abstract in AMA style:
R. Valenti-Azcarate, I. Martinez-Valbuena, I. Marcilla Garcia, G. Marti, M. Carmona-Abellan, MT. Tuñon-Alvarez, MT. Luquin-Piudo. Amylin single-nucleotide polymorphism and Parkinson’s disease [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/amylin-single-nucleotide-polymorphism-and-parkinsons-disease/. Accessed June 14, 2025.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/amylin-single-nucleotide-polymorphism-and-parkinsons-disease/