OMIA:002378-9541 : Parkinson disease, SNCA-related in Macaca fascicularis (crab-eating macaque)

In other species: white-tufted-ear marmoset , Rhesus monkey , pig

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 163890 (gene) , 127750 (trait) , 168601 (trait) , 605543 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Koprich et al. (2016) "validated surgical and vector parameters to define a means to provide a robust over-expression of alpha-synuclein [in cynomolgus macaque] ... . ... an AAV1/2 vector incorporating strong transcription and transduction regulatory elements was used to deliver the gene for the human A53T mutation of alpha-synuclein." 
Rico et al. (2024) used "retrogradely-spreading adeno-associated viral vector serotype 9 coding for the alpha-synuclein A53T mutated gene (AAV9-SynA53T) to induce a widespread synucleinopathy of cortical and subcortical territories innervating the putamen" in cynomolgus macaques. 

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SNCA synuclein alpha Macaca fascicularis 5 NC_052259.1 (86833307..86722390) SNCA Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002378-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Pan, M.T., Zhang, H., Li, X.J., Guo, X.Y. :
Genetically modified non-human primate models for research on neurodegenerative diseases. Zool Res 45:2095-8137(2024)02-0263-12:263-274, 2024. Pubmed reference: 38287907. DOI: 10.24272/j.issn.2095-8137.2023.197.
Rico, A.J., Corcho, A., Chocarro, J., Ariznabarreta, G., Roda, E., Honrubia, A., Arnaiz, P., Lanciego, J.L. :
Development and characterization of a non-human primate model of disseminated synucleinopathy. Front Neuroanat 18:1355940, 2024. Pubmed reference: 38601798. DOI: 10.3389/fnana.2024.1355940.
2016 Koprich, J.B., Johnston, T.H., Reyes, G., Omana, V., Brotchie, J.M. :
Towards a Non-Human Primate Model of Alpha-Synucleinopathy for Development of Therapeutics for Parkinson's Disease: Optimization of AAV1/2 Delivery Parameters to Drive Sustained Expression of Alpha Synuclein and Dopaminergic Degeneration in Macaque. PLoS One 11:e0167235, 2016. Pubmed reference: 27902767. DOI: 10.1371/journal.pone.0167235.

Edit History

  • Created by Imke Tammen2 on 09 Apr 2024
  • Changed by Imke Tammen2 on 09 Apr 2024
  • Changed by Imke Tammen2 on 15 Apr 2024