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Alpha-synuclein (aSyn) is a protein that, in humans, is encoded by the SNCA gene. [5] Alpha-synuclein is a neuronal protein that regulates synaptic vesicle trafficking and subsequent neurotransmitter release. [6] [7] It is abundant in the brain, while smaller amounts are found in the heart, muscle and other tissues.
Mutations in alpha-synuclein are associated with early-onset familial Parkinson's disease and the protein aggregates abnormally in Parkinson's disease, Lewy body disease, and other neurodegenerative diseases. [5] [6] The gamma-synuclein protein's expression in breast tumors is a marker for tumor progression. [7] [8]
Mihael H. Polymeropoulos (born February 27, 1960) is a Greek-American physician and scientist. He is known for his work in the Human Genome Project and the discovery of mutations in the alpha synuclein gene as the first genetic cause of Parkinson's disease while at the National Institutes of Health.
The findings align with prior research suggesting that misfolded alpha-synuclein proteins may spread from the gut to the brain via the vagus nerve, offering further support for the hypothesis that ...
The DNA repair function of alpha-synuclein appears to be compromised in Lewy body inclusion bearing neurons, and this may trigger cell death. Study of synucleinopathy mouse models of Parkinson's disease indicates that alpha-synuclein pathogenesis is associated with increased DNA damage and activation of the DNA damage response. [19]
In the case of Parkinson’s, an accumulation of the alpha-synuclein protein is “a strong, pathological hallmark” of the disease, Jimenez-Shahed said.
Alpha-synuclein (α-synuclein) is an endogenous protein that is encoded by the SNCA gene and known as the pathological hallmark of Parkinson's disease. [13] It is found in distinct regions of the body, but in PD, alpha-synuclein accumulation in the brain is of main importance.
This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration.