Epigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis
Publication Date
August 10, 2017
Journal
PLOS ONE
Authors
Paul E. Young, Stephen Kum Jew, Michael E. Buckland, Roger Pamphlett, et al
Volume
12
Issue
8
Pages
e0182638
DOI
https://dx.plos.org/10.1371/journal.pone.0182638
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0182638
Scopus
85027243832
Mendeley
http://www.mendeley.com/research/epigenetic-differences-between-monozygotic-twins-discordant-amyotrophic-lateral-sclerosis-als-provid
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Mendeley | Further Information

{"title"=>"Epigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis", "type"=>"journal", "authors"=>[{"first_name"=>"Paul E.", "last_name"=>"Young", "scopus_author_id"=>"55768931600"}, {"first_name"=>"Stephen Kum", "last_name"=>"Jew", "scopus_author_id"=>"36488078900"}, {"first_name"=>"Michael E.", "last_name"=>"Buckland", "scopus_author_id"=>"21833648100"}, {"first_name"=>"Roger", "last_name"=>"Pamphlett", "scopus_author_id"=>"7005953614"}, {"first_name"=>"Catherine M.", "last_name"=>"Suter", "scopus_author_id"=>"7006195319"}], "year"=>2017, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "scopus"=>"2-s2.0-85027243832", "pui"=>"617752222", "doi"=>"10.1371/journal.pone.0182638", "isbn"=>"1932-6203; 1932-6203", "sgr"=>"85027243832", "pmid"=>"28797086"}, "id"=>"523db696-02d0-3867-b2e5-816fe0c42ca4", "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.", "link"=>"http://www.mendeley.com/research/epigenetic-differences-between-monozygotic-twins-discordant-amyotrophic-lateral-sclerosis-als-provid", "reader_count"=>21, "reader_count_by_academic_status"=>{"Student > Doctoral Student"=>2, "Researcher"=>2, "Student > Ph. D. Student"=>6, "Student > Postgraduate"=>1, "Student > Master"=>2, "Student > Bachelor"=>5, "Lecturer > Senior Lecturer"=>1, "Professor"=>2}, "reader_count_by_user_role"=>{"Student > Doctoral Student"=>2, "Researcher"=>2, "Student > Ph. D. Student"=>6, "Student > Postgraduate"=>1, "Student > Master"=>2, "Student > Bachelor"=>5, "Lecturer > Senior Lecturer"=>1, "Professor"=>2}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Biochemistry, Genetics and Molecular Biology"=>4, "Medicine and Dentistry"=>3, "Agricultural and Biological Sciences"=>5, "Arts and Humanities"=>2, "Neuroscience"=>4, "Business, Management and Accounting"=>1, "Chemistry"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>3}, "Neuroscience"=>{"Neuroscience"=>4}, "Chemistry"=>{"Chemistry"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Business, Management and Accounting"=>{"Business, Management and Accounting"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>4}, "Unspecified"=>{"Unspecified"=>1}, "Arts and Humanities"=>{"Arts and Humanities"=>2}}, "group_count"=>1}

Scopus | Further Information

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