A novel POLG2 variant leads to disrupted mitochondrial integrity in a family with cerebellar ataxia and progressive ophthalmoplegia
Objective: To investigate the molecular consequences of a variant of unknown significance (VUS) in POLG2. Background: Mitochondrial DNA (mtDNA) is replicated by DNA polymerase gamma,…Rotenone exposure is associated with mitochondrial DNA (mtDNA) damage in humans
Objective: To determine if mtDNA damage can serve as a biomarker of prior pesticide exposure. Background: Mitochondrial dysfunction is a hallmark of PD, and exposure…Evaluating IL6 and mitochondrial DNA levels as a potential biomarker in carriers of Parkin and PINK1 mutations
Objective: To discriminate affected PARK-Parkin and PARK-PINK1 mutation carriers from idiopathic Parkinson’s disease (PD) patients and healthy controls using serum IL-6 and mtDNA levels. Background:…Detecting unsuspected mitochondrial disease: an algorithmic approach
Objective: To present an algorithmic approach to the diagnosis of mitochondrial disease for clinical neurologists Background: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome)…The role of mitochondria in modifying penetrance of Parkin gene variants
Objective: To understand whether mitochondrial DNA (mtDNA) mutation load can modify the penetrance of variants in the Parkinson’s disease (PD) causing gene PRKN (Parkin), in…Transcriptome modification of anodal transcranial direct current stimulation in transgenic Parkinson’s disease mouse model
Objective: We tried to investigate the impact of tDCS on mRNA and microRNA expression in striatum and substantia nigra of transgenic mouse model of PD.…α-Synuclein induced dopaminergic neurons mitochondrial dysfunction via cytochrome c oxidase subunit 2
Objective: To investigate the mechanism of how α-Syn injure the the dopaminergic neurons. Background: The misfolded α-Synuclein(α-Syn) transferring from cells to cells as prion protein…Mitochondrial DNA variants function as potential genetic risk factors for Parkinson disease
Objective: To understand whether mtDNA variants contribute to the susceptibility to sporadic PD. Background: It is well-recognized that mitochondrial (mt) dysfunction is involved in the…Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea
Objective: Progressive leukoencephalopathy with primary ovarian failure (LKENP; OMIM # 615889) is a novel ovario-leukodystophy caused by compound heterozygote mutations in the AARS2 gene of…Mitochondrial-nuclear interplay in single respiratory chain-deficient Parkinson’s disease neurons
Objective: To explore the role of the mitochondrial DNA (mtDNA) in the development of respiratory chain complex (CI-IV) deficiencies in the substantia nigra (SN) of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.