Alpha Synuclein (BSB-114), MMab

Intended Use

For In Vitro Diagnostic Use

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Alpha-synuclein is a 140 amino acids protein encoded by the SNCA gene. It is predominantly expressed in the neocortex, hippocampus, substantia nigra, thalamus, and cerebellum with smaller amounts are found in the heart, muscles, and other tissues. In the brain, alpha-synuclein is found mainly in presynaptic terminals. An alpha-synuclein fragment, known as the non-Abeta component (NAC) of Alzheimer’s disease amyloid, originally found in an amyloid-enriched fraction, was shown to be a fragment of its precursor protein, NACP. Alpha-synuclein aggregates to form insoluble fibrils in pathological conditions characterized by Lewy bodies, such as Parkinson’s disease, dementia with Lewy bodies and multiple system atrophy. These disorders are known as synucleinopathies. Occasionally, Lewy bodies contain tau protein; however, alpha-synuclein and tau constitute two distinctive subsets of filaments in the same inclusion bodies. Alpha-synuclein pathology is also found in both sporadic and familial cases with Alzheimer’s disease. In rare cases of familial forms of Parkinson’s disease, there is a mutation in the gene coding for alpha-synuclein. Genomic duplication and triplication of the gene appear to be a rare cause of Parkinson’s disease in other lineages, although more common than point mutations. Hence certain mutations of alpha-synuclein may cause it to form amyloid-like fibrils that contribute to Parkinson’s disease.