PD is a degenerative disorder of the central nervous system. Most of the PD cases are idiopathic (no cause).
A small proportion of cases can be attributed to known genetic factors.
Other factors such as environmental toxins, herbicides, pesticides and fungicides have been associated with the risk of developing PD no cause in proven.
PD is non genetic disorder.
15% of individuals with PD have a first degree relative who has the disease.
At least 5% of people are now known to have forms of the disease that occur because of a mutation of one of severe specific genes.
Plantations in specific genes have been shown to cause PD.
These genes code for alpha-synuclein(SNCA) parkin(PRKN), Leucine-rich repeat kinase 2 (LRRK 2 or dardar in), PTEN- induced putative kinase 1 (PINK 1) DI-1 and ATPI3A2. In most cases, people with these mutations will develop PD. With the exception of LRRK2, they account for only a small minority of cases of PD. The most extensively studied PD related genes are SNCA and LRRK2 and Glucocerebrosidase (GBA) have been found to be risk factors for sporadic PD- Mutatoins in GBA are known to cause Gauchers disease.
Genome-wise association studies which search for PD mutated alleles with low penetrance in sporadic cases have now yielded many positive results.
The role of the SNCA Gene is important in PD because the alpha synuclein protein is the main component of Lewy bodies.
SNCA is expressed throughout the mammalian brain, and enriched in presynaptic nerve terminals. Missense Mutations of the gene (in which a single nucleoid is changed) and duplications and triplications of the locus containing it have been found in different groups with familial PD.
Missense mutations in SNCA are rare.
Multiplications of the SNCA locus account for around 2% of familial cases. Multiplications of the SNCA have been found in asymptomatic carriers, which indicate that penetrance is incomplete or age dependent.
Level of alpha synuclein expression correlates with disease onset and progression with SNCA gene triplication advancing earlier and faster than duplication.
LRRK 2 Gene:
LRRK2 gene (PARK 8) encodes for a protein called dardarin.
The name dardarin was taken from a basque word for tremors because this gene was first identified in families from England and the North Spain.
A significant number of autosomal dominant Parkinsons Disease cases are associated with mutations in the LRRK2 gene.
Mutation in LRRK2 are the most common known cause of familial and sporadic PD, accounting for approximately 5% of the individuals with a family history of the disease.
There are many different mutations described in exists for a small number.
Mutations in the PINK 1, PRKN and DJ1 may cause mitochondrial dysfunction an element of both idiopathic and genetic PD.
Of related interest are mutations in the progranulin gene that have been found to cause corticobasal degeneration seen in dementia.
This could be relevant in PD cases associated with dementia.
Mutations in GBA are known to cause Gauchers disease.
Genome wide association studies, that search for mutated alleles with low penetrance in sporadic cases have now yielded many positive results mendelian genetics are not strictly observed in GBA mutations found in inherited Parkinsonism
Incidentally both gain of functions and loss of functions GBA mutations are proposed to contribute to Parksinsonism through effects such as increased alpha synulcein level.
PD is thought to result from a complex interaction between multiple genetic and environmental factors, though rare managerial forms of the disease do exist.
Mutations in 6 genes (SNCA, LRRK2, PRKN, DJ1, Pink1 and ATP13A2) have been shown to cause familial Parksinonsism.
In common variation in 3 genes (MAPT, LRRK1 and SNCA) and loss of function mutations in GBA have been well validated.
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