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Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's diseas.
Figure 1: Paper cover image
Pathological manifestations are loss of dopaminergic neurons in the substantia nigra and Lewy bodies or Lewy neuritis, the latter consisting mainly of α-synuclein (α-Syn.
α-Syn is a 140 amino acid presynaptic protein comprising three characteristic domains: (1) an amphiphilic N-terminal domain, (2) a non-amyloid beta component domain of plaques, and (3) Acidic C-terminal domai.
α-Syn binds to synaptic vesicle membranes through its amphiphilic domain and is involved in synaptic vesicle release, although its physiological function is not fully understoo.
These variants are thought to have the effect of increasing aggregation or altering the affinity for phospholipid.
Figure 2: The results of the paper
Genetic screening identified SNCA .
The missense variant V15A is extremely rare in several public databases and predicted to be pathogenic using in silic.
The significance of this study is the discovery that the V15A variant found in a Japanese family reinforces the possibility that the V15A variant may be a pathogenic variant in P.
Original source:Daida K, Shimonaka S, Shiba‐Fukushima K, et a.
