Friday, September 19, 2008

alpha-synuclien and LKKR2 in PD

The two most significant genes which have been widely implicated in familial and sporadic PD are the alpha-synuclein (ASN) and Leucine Rich Repeat Kinase 2 (LRRK2). In PD patients with defects in either of gene (through mutation or other disease causing mechansim), evidence of Lewy Bodies (intracellular esinophillic depositions) and Lewy Neurites are observed in the substantia nigra (SN) of the brain.
PD has been the second most common neurodegenerative disease in the world affecting about 2% of the population. It is a neurological disorder in which degeneration of midbrain dopaminergic neurons leads to loss in motor functions.
I would like to define the cardinal symptons of PD as some one who has been "TRAP"-ed by old age:
T: Tremor
R: Rigidity
A: Akinesia / Bradykinesia
P: Postural Instability

Will discuss more about LRRK2 (the gene of my interest) in subsequent posts, and will evolve a link how GPCRs play a role in PD.

No comments: