PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups.

ABSTRACT:

Aims and objectives

A new pathomechanism of Parkinson's disease (PD) involving regulation of mitochondrial functions was recently proposed. Parkin complexed with mitochondrial transcription factor A (TFAM) binds mtDNA and promotes mitochondrial biogenesis, which is abolished by PARK2 gene mutations. We have previously shown that mitochondrial haplogroups/clusters and TFAM common variation influenced PD risk. We investigate the role of PARK2 polymorphisms on PD risk and their interactions with mitochondrial haplogroups/clusters as well as with TFAM variability.

Methods

104 early-onset PD patients (EOPD, age at onset ≤ 50 years) were screened for PARK2 coding sequence changes including gene dosage alterations. Three selected PARK2 polymorphisms (S167N, V380L, D394N) were genot

SUBMITTER: Gaweda-Walerych K 

PROVIDER: S-EPMC3358581 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature