Genetics of Parkinson's Disease: Discoveries and Therapeutics

Dear Colleagues,

Genetic and environmental factors have been linked to Parkinson’s disease (PD), which is a neurological disorder with complex aetiologies. Several pathogenic genes are responsible for autosomal dominant (such as alpha synuclein and LRRK2) and recessive (such as Parkin and Pink1) PD. In addition, >90 gene loci have been associated with sporadic PD. Among these genes, GBA variants are associated with a high PD risk, and a common recurrent mutation, G2019S in LRRK2, accounts for up to 30–40% of cases in certain populations. In addition, LRRK2-coding polymorphic risk variants have been found in certain ethnic races. GWAS studies have also led to the development of the polygenic risk score.

Subsequently, the identification of genes has led to the creation of transgenic animal models and human ipsc-derived neuronal models. These models have provided pathophysiologic insights and have identified key molecular features associated with neurodegeneration, including mitochondrial dysfunction, oxidative stress, protein accumulation and neuroinflammation.

The study of genetic targets has translated into various clinical drug trials, including LRRK2 inhibitors and synuclein antibodies, among several others. The challenges and limitations faced by these trials have encouraged further efforts to better screen and stratify patients with a similar genetic background for future precision medicine approaches.

Given this background, this Special Issue is open to all studies related to clinical genetics, functional genomics and animal studies of genes and their related targets and pathways linked to PD.

Prof. Dr. Eng King Tan
Guest Editor

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