ArticlePloS one2017
Epigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- Systematic investigation of interindividual variation of DNA methylation in human whole blood.Genome biology · 2026Article
- A multi-omics study on monozygotic twins discordant for amyotrophic lateral sclerosis and literature review underline a potential role for innate immunity and epigenetic dysregulation in disease mechanisms.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Epigenetics in Neurodegenerative Diseases.Sub-cellular biochemistry · 2025Review
- Review
- DNA methylation in amyotrophic lateral sclerosis: where do we stand and what is next?Epigenomics · 2024Article
- The amyotrophic lateral sclerosis exposome: recent advances and future directions.Nature reviews. Neurology · 2023Review
- Machine learning hypothesis-generation for patient stratification and target discovery in rare disease: our experience with Open Science in ALS.Frontiers in computational neuroscience · 2023Article
- The toxic metal hypothesis for neurological disorders.Frontiers in neurology · 2023Article
- The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).Neurobiology of disease · 2022Review
- Motoneuron Diseases.Advances in neurobiology · 2022Article
- The Big Picture of Neurodegeneration: A Meta Study to Extract the Essential Evidence on Neurodegenerative Diseases in a Network-Based Approach.Frontiers in aging neuroscience · 2022Article
- Application of a bioinformatic pipeline to RNA-seq data identifies novel virus-like sequence in human blood.G3 (Bethesda, Md.) · 2021Article
- Lipidomic traits of plasma and cerebrospinal fluid in amyotrophic lateral sclerosis correlate with disease progression.Brain communications · 2021Article
- Circulating RNAs as Potential Biomarkers in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2020Review
- Mitochondrial Dysfunction, Neurogenesis, and Epigenetics: Putative Implications for Amyotrophic Lateral Sclerosis Neurodegeneration and Treatment.Frontiers in neuroscience · 2020Review
- DNA Methylation Clocks and Their Predictive Capacity for Aging Phenotypes and Healthspan.Neuroscience insights · 2020Review
- Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.Scientific reports · 2019Article
- Biomarkers in Motor Neuron Disease: A State of the Art Review.Frontiers in neurology · 2019Review
- Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.Frontiers in genetics · 2019Article
- Kynurenine Pathway Metabolites as Biomarkers for Amyotrophic Lateral Sclerosis.Frontiers in neuroscience · 2019Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amyotrophic lateral sclerosis (ALS) is a devastating late-onset neurodegenerative disorder in which only a small proportion of patients carry an identifiable causative genetic lesion. Despite high heritability estimates, a genetic etiology for most sporadic ALS remains elusive. Here we report the epigenetic profiling of five monozygotic twin pairs discordant for ALS, four with classic ALS and one with the progressive muscular atrophy ALS variant, in whom previous whole genome sequencing failed to uncover a genetic basis for their disease discordance. By studying cytosine methylation patterns in peripheral blood DNA we identified thousands of large between-twin differences at individual CpGs. While the specific sites of differences were mostly idiosyncratic to a twin pair, a proportion involving GABA signalling were common to all ALS individuals. For both idiosyncratic and common sites the differences occurred within genes and pathways related to neurobiological functions or dysfunctions, some of particular relevance to ALS such as glutamate metabolism and the Golgi apparatus. All four classic ALS patients were epigenetically older than their unaffected co-twins, suggesting accelerated aging in multiple tissues in this disease. In conclusion, widespread changes in methylation patterns were found in ALS-affected co-twins, consistent with an epigenetic contribution to disease. These DNA methylation findings could be used to develop blood-based ALS biomarkers, gain insights into disease pathogenesis, and provide a reference for future large-scale ALS epigenetic studies.
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