PARK2
The PARK2 Gene: A Comprehensive Guide
Description
The PARK2 gene, located on chromosome 6q25.2-q27, encodes a protein called Parkin, which plays a crucial role in maintaining mitochondrial health and preventing the accumulation of damaged mitochondria. Parkin is involved in the selective autophagy of dysfunctional mitochondria, a process known as mitophagy.
Associated Diseases
Mutations in the PARK2 gene have been linked to several neurodegenerative diseases, including:
- Parkinson's disease: Mutations in PARK2 cause an autosomal recessive form of Parkinson's disease, known as PARK2-related PD. It is characterized by tremors, rigidity, bradykinesia (slowed movement), and postural instability.
- Juvenile Parkinsonism: Mutations in PARK2 can also lead to juvenile Parkinsonism, a rare form of the disorder that typically affects individuals before the age of 20. It shares similar symptoms with Parkinson's disease, but can also include cognitive and behavioral symptoms.
- Other neurodegenerative diseases: Mutations in PARK2 have been implicated in other neurodegenerative diseases, such as Alzheimer's disease, Huntington's disease, and amyotrophic lateral sclerosis (ALS).
Did you Know ?
PARK2-related PD is the second most common genetic cause of Parkinson's disease, accounting for approximately 10% of familial cases.
