Topic: PRKN

Inactivating mutations in the PRKN gene encoding the ubiquitin ligase PARKIN are a leading cause of Autosomal Recessive Juvenile Parkinsonism (ARJP), a neurodegenerative disease characterized by early dysfunction and death of dopaminergic neurons in the substantia nigra pars compacta (SNc). Harnessing this mutation to create an early-onset Parkinson’s disease (PD) mouse model would provide a unique opportunity to clarify the mechanisms involved in the neurodegenerative process and lay the groundwork for the development of neuroprotective strategies. By using CRISPR/Cas9 technology, we created

Mitochondria are dynamic organelles which undergo fusion and fission processes responsible for mitochondrial network rearrangements. When mitochondria are damaged, they are selectively degraded via mitophagy. Collectively, these processes are referred to as “mitochondrial dynamics”, and are dysregulated in Parkinson’s disease (PD). Mutations in mitophagy-related PRKN gene, which encodes the E3 ubiquitin ligase Parkin, have been linked to autosomal recessive juvenile PD. Recently, Rab proteins, molecular players of the endo-lysosomal pathway, have been linked to mitophagy, and mutations in RAB3

Parkinson's disease (PD) is the second most prevalent neurodegenerative disease. Primary symptoms of PD arise with the loss of dopaminergic (DA) neurons in the Substantia Nigra Pars Compacta, but it affects the hippocampus and cortex also, usually in its later stage. Approximately 15% of PD cases are familial with a genetic mutation. Two of the most associated genes with autosomal recessive (AR) early-onset familial PD are PINK1 and PRKN. There is a need for in-vitro studies of these genetic mutations in order to understand the neurophysiological changes in patients' neurons that may contribut