Genetic basis of Parkinson’s disease
Research on Parkinson’s disease has proved that the main cause behind the disease and its main symptoms, are the degradation of dopaminergic neurons which produce dopamine in the substantia nigra. This is the region of the brain which is a part of the basal ganglia, a collection of brain regions controlling movement through connections with the motor cortex. Degeneration of these neurons could result from a range of point mutations and duplications in genes such as the alpha-synuclein (SNCA) gene, leucine-rich repeat kinase 2 (LRRK2) gene, Parkin, PINK1, DJ-1 and ATP13A2. Other uncommon variants which have been identified in recent studies are the polymorphisms in the SNCA and heterozygous mutations in the beta-glucocerebrosidase (GBA) gene.
Parkinson’s disease (PD) is a chronic progressive disease of the nervous system affecting ones movement. It is the second most common neurodegenerative disorder after Alzheimer’s disease. PD is characterized by cardinal features of rigidity, bradykinesia, tremor and postural instability. The causes of the disease are mostly unknown and usually sporadic, however there have been studies showing a 10-15% association with a genetic predisposition, as well as a number of environmental factors, such as exposure to toxins ‘herbicides and pesticides’. This report will summarize the most common identified molecular genetics of PD and its familial forms.