title: [Role of genetics in the etiology of synucleinopathies].
abstract: The protein family known as synucleins is composed of α-, β- and γ-synuclein. The most widely studied is the α-synuclein protein due to its participation in essential processes of the central nervous system. Neurotoxicity of this protein is related to the presence of multiplications (duplications and triplications) and point mutations in the gene sequence of the α-synuclein gene (SNCA), differential expression of its isoforms and variations in post-transductional modifications. Neurotoxicity is also related to cytoplasmic inclusions known as Lewy bodies (LBs) and Lewy neurites (LNs), which are also present in α-synucleinopathies. In general, the β-synuclein protein, codified by the SNCB gene, acts as a regulator of processes triggered by α-synuclein and its function is altered by variations in the gene sequence, while γ-synuclein, codified by the SNCG gene, seems to play a major role in certain tumoral processes.
authors.affiliation: Grupo de Investigación BIOMICS, Departamento de Biología Celular A, Centro de Investigación y Estudios Avanzados Lucio Lascaray, Universidad del País Vasco UPV/EHU, Vitoria-Gasteiz, España.
authors.forename: Xabier
authors.initials: X
authors.lastname: Elcoroaristizabal Martín
authors.forename: Fernando
authors.initials: F
authors.lastname: Gómez Busto
authors.forename: M C
authors.initials: MC
authors.lastname: González Fernández
authors.forename: Marian M
authors.initials: MM
authors.lastname: de Pancorbo
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D051844:alpha-Synuclein / Q000235:genetics* / Q000502:physiology; D051846:beta-Synuclein / Q000235:genetics* / Q000502:physiology
chemical_list: D051844:alpha-Synuclein; D051846:beta-Synuclein