Genetic Alterations of Parkinson´s disease (PD)

In autosomal-dominant inheritance, mutations in the SNCA gene (locus PARK1), such as Ala53Thr (A53T) missense mutation (protein chain changes), variations in the coding regions (Ala30Pro, Glu46Lys) and single-nucleotide substitution in 3′ UTR seem to produce PD. A second gene affected is LRRK2 (locus PARK8), probably implicated in neurite outgrowth and cytoskeletal maintenance. In the autosomal-recessive pattern, mutations in three genes are implicated. Firstly, PARKIN (locus PARK2), most common in juvenile Parkinsonism. Secondly, PINK1 (locus PARK6), present with variable frequency of 1-9% depending on ethnicity. Finally, DJ1 (locus PARK7), the less common (~1%) (1).

Reference

1. La Cognata V, D´Agata V, Cavalcanti F, Cavallaro S. Genetics of Parkinson’s Disease: The Role of Copy Number Variations. Institute of Neurological Sciences. Italian National Research Council. 2016.

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