The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…Quercetin Reduces mtDNA Release in PRKN-Deficient and Oxidatively Stressed SH-SY5Y Cells
Objective: This study investigates the role of Parkin deficiency in mitochondrial dysfunction and its contribution to mitochondrial DNA (mtDNA) release in Parkinson’s disease (PD). We…CSF Mitochondrial DNA Indicates Body Composition and Energy Metabolism in Parkinson’s Disease.
Objective: This study aimed to elucidate the associations between cerebrospinal fluid (CSF) cell-free mitochondrial DNA (cf-mtDNA) levels and body composition, nutritional status, and metabolic biomarkers…Association of Mitochondrial DNA Haplogroup and pS65-Ub Levels in Lewy Body Disease
Objective: To determine whether specific mitochondrial DNA (mtDNA) haplogroup(s) affect the level of p-S65-Ub as quantitative marker of mitochondrial damage in Lewy Body Disease. Background:…Assessment of mitochondrial DNA copy number and common deletion (del4977) as candidate peripheral biomarkers for Spinocerebellar ataxia type 2
Objective: Assessing the relevance of mtDNA copy number (mtDNAcn) and its common deletion (del4977) as candidate peripheral biomarkers for Spinocerebellar ataxia type 2 (SCA2). Background:…Parkinsonism Associated with Twinkle Gene Mutation
Objective: To describe a rare manifestation of Twinkle gene mutation causing not only progressive external ophthalmoplegia (PEO), but also parkinsonism. Background: PEO is one of…A Patient with Overlapping SPG7 mutation and MERRF
Objective: To describe the first case of concomitant spastic paraplegia type 7 (SPG7) and myoclonic epilepsy with ragged red fibers (MERRF) in a patient with…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:…Association of Early and late age of onset with Mitochondrial DNA haplogroup in Indian Spinocerebellar Ataxia type- 2 patients.
Objective: To explore the role of mtHaplogroups in early and late onset SCA2 patients. Background: An unstable expansion of a CAG tract in the ATXN2…Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease
Objective: Our objective in this study was to elucidate the mechanisms underlying the release of mtDNA in cellular models of Parkin-associated Parkinson’s disease and to…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.