Exome-wide and Mitogenome Sequencing of Indian Dystonia Patients
Objective: To identify whole exome and mitochondrial genome mutation spectrum of dystonia in India and to establish clinical significance of mutations by phenotype-genotype correlation. Background:…Multiple system atrophy mimicked by mitochondrial disease.
Objective: Characterized a case with A3243G mutation in mtDNA tRNALeu, a variant of mitochondrial disease; MELAS, which presents with atypical parkinsonism as Multiple system atrophy.…Parkin deficiency impairs mtDNA dynamics and propagates inflammation
Objective: We sought to explore Parkin’s role in (i) averting neuronal mtDNA dyshomeostasis/release and (ii) the activation of downstream inflammatory processes. Background: Mutations in Parkin…TWNK in Parkinson’s disease: a Movement Disorder and Mitochondrial Disease Center perspective study
Objective: The aim of the study was to screen for TWNK variants in an Italian cohort of Parkinson’s disease (PD) patients, and to assess the…Nanopore single-molecule sequencing to investigate mitochondrial DNA CpG methylation in Parkinson’s disease
Objective: Nanopore whole-genome sequencing of native DNA to investigate mitochondrial DNA (mtDNA) CpG methylation from patients with Parkinson’s disease (PD) and healthy controls. Background: PD…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.