Parkinson's disease is predominantly a genetic disease
The discovery of a pathogenic variant in the alpha-synuclein (SNCA) gene in the Contursi
kindred in 1997 indisputably confirmed a genetic cause in a subset of Parkinson's disease …
kindred in 1997 indisputably confirmed a genetic cause in a subset of Parkinson's disease …
Mitigating age-related somatic mutation burden
J Vijg, B Schumacher, A Abakir, M Antonov… - Trends in Molecular …, 2023 - cell.com
Genomes are inherently unstable and require constant DNA repair to maintain their genetic
information. However, selective pressure has optimized repair mechanisms in somatic cells …
information. However, selective pressure has optimized repair mechanisms in somatic cells …
Transcriptional mutagenesis of α-synuclein caused by DNA oxidation in Parkinson's disease pathogenesis
Oxidative stress plays an essential role in the development of Parkinson's disease (PD). 8-
oxo-7, 8-dihydroguanine (8-oxodG, oxidized guanine) is the most abundant oxidative stress …
oxo-7, 8-dihydroguanine (8-oxodG, oxidized guanine) is the most abundant oxidative stress …
Next-Generation Sequencing Methodologies to Detect Low-Frequency Mutations:“Catch Me If You Can”
Mutations, the irreversible changes in an organism's DNA sequence, are present in tissues
at a variant allele frequency (VAF) ranging from~ 10-8 per bp for a founder mutation to~ 10-3 …
at a variant allele frequency (VAF) ranging from~ 10-8 per bp for a founder mutation to~ 10-3 …
Elevated E200K Somatic Mutation of the Prion Protein Gene (PRNP) in the Brain Tissues of Patients with Sporadic Creutzfeldt–Jakob Disease (CJD)
SY Won, YC Kim, BH Jeong - International Journal of Molecular Sciences, 2023 - mdpi.com
Sporadic Creutzfeldt–Jakob disease (CJD) is a major human prion disease worldwide. CJD
is a fatal neurodegenerative disease caused by an abnormal prion protein (PrPSc). To date …
is a fatal neurodegenerative disease caused by an abnormal prion protein (PrPSc). To date …
Somatic genetic variation in healthy tissue and non-cancer diseases
M Solís-Moruno, L Batlle-Masó, N Bonet… - European Journal of …, 2023 - nature.com
Somatic genetic variants have been studied for several years mostly concerning cancer,
where they contribute to its origin and development. It is also clear that the somatic variants …
where they contribute to its origin and development. It is also clear that the somatic variants …
The toxic metal hypothesis for neurological disorders
R Pamphlett, DP Bishop - Frontiers in Neurology, 2023 - frontiersin.org
Multiple sclerosis and the major sporadic neurogenerative disorders, amyotrophic lateral
sclerosis, Parkinson disease, and Alzheimer disease are considered to have both genetic …
sclerosis, Parkinson disease, and Alzheimer disease are considered to have both genetic …
Reduced frequency of clonal hematopoiesis in Parkinson's disease
To test if clonal hematopoiesis of indeterminate potential (CHIP) is associated with the
incidence of Parkinson's Disease (PD), we analyzed blood whole exome sequencing data …
incidence of Parkinson's Disease (PD), we analyzed blood whole exome sequencing data …