SNCA A53T Human
Description
Product Specs
MDVFMKGLSK AKEGVVAAAE KTKQGVAEAA GKTKEGVLYV GSKTKEGVVH GVTTVAEKTK EQVTNVGGAV VTGVTAVAQK TVEGAGSIAA ATGFVKKDQL GKNEEGAPQE GILEDMPVDP DNEAYEMPSE EGYQDYEPEA.
Product Science Overview
The A53T mutation is a missense point mutation in the alpha-synuclein gene, where the 53rd amino acid is altered from alanine to threonine. This mutation is caused by a change from guanine to adenine at position 209 of the SNCA gene (G209A). The A53T mutation is one of several mutations in the alpha-synuclein gene that have been linked to familial Parkinson’s disease (PD) and other neurodegenerative disorders .
Parkinson’s disease is characterized by the aggregation of alpha-synuclein into Lewy bodies in the brain. These aggregates are thought to lead to neuronal dysfunction and death. The A53T mutation has been associated with autosomal dominant, early-onset Parkinson’s disease, and has been documented in families of Greek, Italian, and Korean descent . The mutation leads to an earlier age of onset and a shorter disease duration compared to sporadic cases of Parkinson’s disease.
Alpha-synuclein can exist in multiple forms, including monomers, oligomers, and fibrils. The A53T mutation promotes the formation of protofibrils and fibrils more rapidly than the wild-type alpha-synuclein. This accelerated aggregation is believed to contribute to the neurodegeneration observed in Parkinson’s disease . The mutation affects the protein’s structure, leading to increased beta-sheet formation and a higher propensity for aggregation.
Recombinant human alpha-synuclein A53T is produced using Escherichia coli expression systems. The recombinant protein is typically purified to high levels of purity (>95%) and is used in various research applications, including functional studies, immunohistochemistry, and electron microscopy . The recombinant protein is biologically active and can be used to study the mechanisms of alpha-synuclein aggregation and its role in neurodegenerative diseases.
Understanding the role of the A53T mutation in alpha-synuclein aggregation and Parkinson’s disease has significant implications for research and therapy. By studying the recombinant A53T protein, researchers can gain insights into the molecular mechanisms underlying alpha-synuclein aggregation and develop potential therapeutic strategies to target these processes. Additionally, the recombinant protein can be used to create models of Parkinson’s disease for drug screening and testing.
