Expression of alpha-synuclein gene and genes of lysosomal membrane proteins and enzymes in Parkinson’s disease associated with mutation in the GBA gene

T. S. Usenko; A. I. Bezrukova; D. A. Bogdanova; K. A. Senkevich; A. V. Kudrevatykh; I. V. Miliukhina; S. N. Pchelina

doi:10.25557/2073-7998.2020.04.107-108

Expression of alpha-synuclein gene and genes of lysosomal membrane proteins and enzymes in Parkinson’s disease associated with mutation in the GBA gene

T. S. Usenko, A. I. Bezrukova, D. A. Bogdanova, K. A. Senkevich, A. V. Kudrevatykh, I. V. Miliukhina, S. N. Pchelina

https://doi.org/10.25557/2073-7998.2020.04.107-108

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Abstract

Mutations in the gene GBA that are encoding the lysosomal enzyme glucocerebrosidase are the most common genetic risk factor for PD. Not every carrier of GBA mutations will develop PD. Probably the dysfunction of lysosomal enzymes and membrane proteins may contribute or protect to the development of PD among carriers of GBA mutations. In the current study LAMP2, GLA, GALNS, SCARB2 and alpha-synuclein mRNA levels in CD45+ blood cells were estimated in patients with GBA-associated PD (GBA-PD), non-manifesting GBA carriers(GBA-Carriers), PD patients and controls. This is the first report estimating LAMP2, GLA, GALNS, SCARB2 and alpha-synuclein expressions in CD45+ blood cells in GBA-PD patients and GBA-Carriers. We revealed increased SNCA expression and changing expression of lysosomal genes (LAMP2, GALNS, SCARB2) that may contribute role these genes in pathogenesis of GBA-PD. Decreased of LAMP2 may be considered as trigger of GBA-PD.