Endoplasmic Reticulum Proteins Impact Penetrance in a <i>Pink1</i>-Mutant <i>Drosophila</i> Model.

ABSTRACT: Parkinson's disease (PD) is a neurodegenerative disorder with a high variability of age at onset, disease severity, and progression. This suggests that other factors, including genetic, environmental, or biological factors, are at play in PD. The loss of PINK1 causes a recessive form of PD and is typically fully penetrant; however, it features a wide range in disease onset, further supporting the existence of protective factors, endogenous or exogenous, to play a role. The loss of Pink1 in Drosophila melanogaster results in locomotion deficits, also observed in PINK1-related PD in humans. In flies, Pink1 deficiency induces defects in the ability to fly; nonetheless, around ten percent of the mutant flies are still capable of flying, indicating that advantageous factors affecting pen

SUBMITTER: Vos M 

PROVIDER: S-EPMC11816808 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature