ArticleJournal of molecular medicine (Berlin, Germany)2014
Association of age at onset in Huntington disease with functional promoter variations in NPY and NPY2R.
Article in Journal of molecular medicine (Berlin, Germany), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- A Systematic Review of Candidate Genes for Major Depression.Medicina (Kaunas, Lithuania) · 2022Pooled it
- Apelin-13 confers Neuropeptide Y-mediated neuroprotection and preserves learning and allocentric memory in D-glutamic acid-induced excitotoxicity in rats.Molecular neurobiology · 2026Article
- Association of Alzheimer's Disease with Promoter Variations in NPY2R Gene.Reports of biochemistry & molecular biology · 2025Article
- Modification of Huntington's disease by short tandem repeats.Brain communications · 2024Article
- Exploring the Therapeutic Effect of Neurotrophins and Neuropeptides in Neurodegenerative Diseases: at a Glance.Molecular neurobiology · 2023Review
- A Variant in Genes of the NPY System as Modifier Factor of Machado-Joseph Disease in the Chinese Population.Frontiers in aging neuroscience · 2022Article
- Regulation of neuropeptide Y in body microenvironments and its potential application in therapies: a review.Cell & bioscience · 2021Review
- Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.Journal of genetics · 2018Review
- Modern Genome Editing Technologies in Huntington's Disease Research.Journal of Huntington's disease · 2017Review
- Neuropeptide Y: A stressful review.Neuropeptides · 2016Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntington disease (HD) is caused by the expansion of a CAG repeat within exon 1 of the HTT gene. Although the variation in age at onset (AO) is partly explained by the lengths of the expanded repeats, the unexplained variation is highly heritable, emphasizing the role of the so-called genetic background on disease expression. Neuropeptide Y (NPY) has been implicated in the modulation of neuroprotection, neurogenesis, and neuroinflammation. Therefore, the aim of the present study was to analyze different single nucleotide polymorphisms (SNPs) in order to test the possibility that genetic variation in NPY or three of its receptor genes (NPY1R, NPY2R, and NPY5R) may explain some of the variation in AO of HD motor manifestations, in a comprehensive cohort of 487 German HD patients. We found modest association of the AO with two NPY promoter variations and a highly significant association with a NPY2R promoter SNP (rs2234759; p = 0.0004). Investigating the functional impact of rs2234759 by luciferase assays revealed that the high-expression NPY2R genotypes were associated with later AO in HD. Additionally, treatment of PC12 cells expressing mutant huntingtin (htt) exon 1 with NPY and the NPY2R agonist NPY(3-36) has a protective effect against mutant htt-induced cell death. Thus, NPY might act through Y2 receptors to slow down the course of HD, and hence, this peptide could be of interest as a possible therapeutic agent.
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