Genetics of Parkinson's disease: the yield.
Lausanne, Switzerland. In Parkinsonism Relat Disord, 31 Jan 2014
Monogenic causes include autosomal dominantly (SNCA, LRRK2, VPS35, EIF4G1) as well as recessively (PARK2, PINK1, DJ-1) inherited mutations.
Induced pluripotent stem cell (iPSC)-derived dopaminergic models of Parkinson's disease.
Oxford, United Kingdom. In Biochem Soc Trans, 01 Jan 2014
Given the characteristic loss of dopaminergic neurons in the substantia nigra pars compacta of PD patients, iPSC-derived midbrain dopaminergic neurons have been generated to investigate pathogenic mechanisms in this important cell type as a means of modelling PD. iPSC-derived cultures studied so far have been made from patients carrying mutations in LRRK2 (leucine-rich repeat kinase 2), PINK1 [PTEN (phosphatase and tensin homologue deleted on chromosome 10)-induced putative kinase 1], PARK2 (encodes parkin) or GBA (β-glucocerebrosidase), in addition to those with SNCA (α-synuclein) multiplication and idiopathic PD.
The Role of Oxidative Stress in Parkinson's Disease.
United States. In J Parkinsons Dis, 19 Dec 2013
PD causing gene products including DJ-1, PINK1, parkin, alpha-synuclein and LRRK2 also impact in complex ways mitochondrial function leading to exacerbation of ROS generation and susceptibility to oxidative stress.
The genetics of Parkinson's disease: progress and therapeutic implications.
Bethesda, United States. In Mov Disord, Jan 2013
Notably, whereas most mutations, such as those in SNCA, PINK1, PARK2, PARK7, PLA2G6, FBXO7, and ATP13A2, are a rare cause of disease, one particular mutation in LRRK2 has been found to be common in certain populations.
Function and characteristics of PINK1 in mitochondria.
Nara, Japan. In Oxid Med Cell Longev, Dec 2012
Mutations in phosphatase and tensin homologue-induced kinase 1 (PINK1) cause recessively inherited Parkinson's disease, a neurodegenerative disorder linked to mitochondrial dysfunction.