Luiz Santana Da Silva

By Marcella Vieira Barroso Montenegro, Carlos Eduardo de Melo Amaral and Luiz Carlos Santana da Silva

Parkinson disease is a complex disease that has multiple genetic and environmental factors. To achieve the early diagnosis and to be able to modify the disease progression, efforts are being made to identify individuals at risk. About 20 year ago, an evidence of major prevalence of Parkinsonism in patients with Gaucher Disease reported by studies worldwide led to the putative involvement of the GBA gene. Nowadays, the link from a rare disease with a common disease is well known and it is confirmed that mutations in the GBA gene are the most important genetic risk factor. Apart from rare mutations, genetic association studied appointed common variants in genes well associated with familial cases as LRRK2 and SNCA may also contribute to the increased risk for sporadic cases. Other common variants in the MAPT gene were also reported. At least, genetic studies have been observed an excessive burden of relevant variants in genes with lysosomal function. Thus, a synergistic action of variants in genes that codifies proteins involved with the lysosome may be a mean of modulating the risk. In this chapter, we review the most robust genetic risk factor and the relevance of lysosomal function for Parkinson disease.

Part of the book: Methods in Molecular Medicine