Reduced penetrance of Parkinson's disease models

Med Genet. 2022 Aug 12;34(2):117-124. doi: 10.1515/medgen-2022-2138. eCollection 2022 Jun.

Abstract

The etiology and progression of Parkinson's Disease (PD), the second most prevalent neurological disorder, have been widely investigated for several decades; however, a cure is still lacking. Despite the development of several neurotoxins and animal models to study this rather heterogeneous disease, a complete recapitulation of the neurophysiology and neuropathology of PD has not been fully achieved. One underlying cause for this could be that mutations in PD-associated genes have reduced penetrance. Therefore, the quest for novel PD models is required where a double hit approach needs to be evoked - a combination of genetic alterations and environmental factors need to be accounted for in one unique model simultaneously.

Keywords: Parkinson’s disease; animal models; reduced penetrance.