Parkinson’s disease (PD) is a complex neurodegenerative disorder with both genetic and environmental factors contributing to its development. While the majority of PD cases are sporadic, approximately 10-15% of cases have a genetic component.
Key Genetic Factors:
1. LRRK2 Gene: Mutations in the LRRK2 gene are the most common genetic cause of PD. These mutations can lead to abnormal protein function and contribute to neurodegeneration.
2. SNCA Gene: Mutations in the SNCA gene, which encodes alpha-synuclein, are associated with familial forms of PD. Alpha-synuclein aggregates are a hallmark of PD pathology.
3. PARK2 Gene: Mutations in the PARK2 gene, which encodes parkin, are linked to early-onset PD. Parkin is involved in the degradation of damaged proteins, and its dysfunction can lead to cellular stress and neuronal death.
4. PINK1 Gene: Mutations in the PINK1 gene are also associated with early-onset PD. PINK1 works in conjunction with parkin to maintain mitochondrial function, and mutations can lead to mitochondrial dysfunction and oxidative stress.
5. GBA Gene: Mutations in the GBA gene, which encodes glucocerebrosidase, are linked to an increased risk of PD. Defective glucocerebrosidase can lead to the accumulation of alpha-synuclein and neuronal damage[.
Genetic Testing and Counseling:
Genetic testing can identify mutations in these genes, providing valuable information for at-risk individuals and their families. Genetic counseling is recommended for those with a family history of PD to discuss the implications of genetic testing and the potential risk of developing the disease.
References:
1.https://www.hopkinsmedicine.org/
2. https://link.springer.com/
Одобрено отDr. Petya Stefanova
