The PACRG gene encodes the Parkin co-regulated protein and is located on 6q26, the cluster with the related gene
PARK2. These genes have a common regulatory region and are involved in ubiquitin-mediated protein degradation.
Further detailed analysis conducted by the research group revealed higher expression of T-type calcium channels in dopaminergic neurons derived from
PARK2 patients.
The study was carried out on
PARK2 knockout mice with bleomycin-induced lung fibrosis.
PARK2 patient neuroprogenitors show increased mitochondrial sensitivity to copper.
[4] Parkinson's gene, a region on chromosome 10p13, TLR2, LTA, PACRG,
PARK2 susceptibility [5] to this gene due to defect in cell mediated immunity, does not make leprosy a hereditary disease.
Multiple-level validation identifies
PARK2 in the development of lung cancer and chronic obstructive pulmonary disease.
Clinical exome sequencing considering 4800 human genes including 18 genes related to Parkinson's disease (PARK1: SNCA;
PARK2: PRKN; PARK3: SPR; PARK4: SNCA Dup/Del; PARK5: UCHL1; PARK6: PINK1; PARK7: DJ1; PARK8: LRRK2; PARK9: ATP13A2; PARK10: ELAVL4; PARK11: GIGYF2; PARK12: TAF1; PARK13: HTRA2; PARK14: PLA2G6; PARK15: FBXO7; PARK16: ADORAI; PARK17: VPS35; PARK18: EIF4GI) (TruSight One Sequencing Panels, Illumina) were performed on MiSeq platform (Illumina).
Evaluation of mitochondrial function in
PARK2 knock out C.
reported that genetic and molecular profiling have identified more than 500 distinct mutations in five genes associated with PD; in alpha-synuclein (SNCA), parkin (
PARK2), phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1), DJ-1 (PARK7), and leucine-rich repeat kinase 2 (LRRK2).6,7 Small insertions, deletions and frame shift mutations account for approximately 82% while the copy number variations are 18%.6
In addition to UBE3A, it was revealed that there was association between synaptic pathology in autism and other ubiquitin genes, including SHANKS, RFWD2, FBXO40, and
PARK2 (32,33).