Detection of LRRK2 gene variants in patients with Parkinson's disease
DOI:
https://doi.org/10.62305/biosana.v6i4.1230Keywords:
Parkinson’s disease; LRRK2; ROC; COR; kinase activity; autophagy; neurodegeneration; Structural variantsAbstract
LRRK2 is one of the most widely studied genes worldwide in the field of Parkinson’s disease, where its pathogenic variants are the primary causes of the disease’s development, disrupting homeostatic processes such as autophagy and vesicular transport mediated by the gene’s cell recognition, as well as through hyperactivity of the kinase domain caused by mutations such as G2019S. The objective is to strengthen the detection of these variants through an analysis of the literature, systematizing current evidence on the function of LRRK2, its associated mutations, and the evolution of the techniques used for their identification. A systematic search was conducted of scientific and verified information sources in recognized databases (Google Scholar, MDPI, PubMed, and NCBI), which were subjected to exclusion and inclusion criteria for final selection. The results confirmed that LRRK2 and its variants—such as G2019S, I2020T, and R1441C/G, among others—play a critical role in the study of Parkinson’s disease and that this role encompasses various mechanisms and pathways in the disease’s development. It was concluded that LRRK2 requires a multidisciplinary approach in which the study of its variants at the molecular level and its structural functioning must converge to fully understand the pathogenic role of LRRK2 and its contribution to the onset of Parkinson’s disease.
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