DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome
<p dir="ltr">Hutchinson–Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder caused by mutations in the <i>LMNA</i> gene and characterized by premature and accelerated aging beginning in childhood. In this study, we performed the first genome-wide methyl...
Saved in:
| Main Author: | |
|---|---|
| Other Authors: | , , , , , , , , , , , |
| Published: |
2022
|
| Subjects: | |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1864513555782434816 |
|---|---|
| author | Yosra Bejaoui (8552574) |
| author2 | Aleem Razzaq (14779189) Noha A. Yousri (1392577) Junko Oshima (1626) Andre Megarbane (3485465) Abeer Qannan (14779192) Ramya Potabattula (4401160) Tanvir Alam (638619) George M. Martin (14779195) Henning F. Horn (14152938) Thomas Haaf (342924) Steve Horvath (28847) Nady El Hajj (686554) |
| author2_role | author author author author author author author author author author author author |
| author_facet | Yosra Bejaoui (8552574) Aleem Razzaq (14779189) Noha A. Yousri (1392577) Junko Oshima (1626) Andre Megarbane (3485465) Abeer Qannan (14779192) Ramya Potabattula (4401160) Tanvir Alam (638619) George M. Martin (14779195) Henning F. Horn (14152938) Thomas Haaf (342924) Steve Horvath (28847) Nady El Hajj (686554) |
| author_role | author |
| dc.creator.none.fl_str_mv | Yosra Bejaoui (8552574) Aleem Razzaq (14779189) Noha A. Yousri (1392577) Junko Oshima (1626) Andre Megarbane (3485465) Abeer Qannan (14779192) Ramya Potabattula (4401160) Tanvir Alam (638619) George M. Martin (14779195) Henning F. Horn (14152938) Thomas Haaf (342924) Steve Horvath (28847) Nady El Hajj (686554) |
| dc.date.none.fl_str_mv | 2022-01-19T06:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1111/acel.13555 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/DNA_methylation_signatures_in_Blood_DNA_of_Hutchinson_Gilford_Progeria_syndrome/22258429 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences accelerated aging DNA methylation epigenetic clock Hutchinson–Gilford Progeria syndrome progeroid laminopathies |
| dc.title.none.fl_str_mv | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Hutchinson–Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder caused by mutations in the <i>LMNA</i> gene and characterized by premature and accelerated aging beginning in childhood. In this study, we performed the first genome-wide methylation analysis on blood DNA of 15 patients with progeroid laminopathies using Infinium Methylation EPIC arrays including 8 patients with classical HGPS. We could observe DNA methylation alterations at 61 CpG sites as well as 32 significant regions following a 5 Kb tiling analysis. Differentially methylated probes were enriched for phosphatidylinositol biosynthetic process, phospholipid biosynthetic process, sarcoplasm, sarcoplasmic reticulum, phosphatase regulator activity, glycerolipid biosynthetic process, glycerophospholipid biosynthetic process, and phosphatidylinositol metabolic process. Differential methylation analysis at the level of promoters and CpG islands revealed no significant methylation changes in blood DNA of progeroid laminopathy patients. Nevertheless, we could observe significant methylation differences in classic HGPS when specifically looking at probes overlapping solo-WCGW partially methylated domains. Comparing aberrantly methylated sites in progeroid laminopathies, classic Werner syndrome, and Down syndrome revealed a common significantly hypermethylated region in close vicinity to the transcription start site of a long non-coding RNA located anti-sense to the Catenin Beta Interacting Protein 1 gene (<i>CTNNBIP1</i>). By characterizing epigenetically altered sites, we identify possible pathways/mechanisms that might have a role in the accelerated aging of progeroid laminopathies.</p><h2>Other Information</h2><p dir="ltr">Published in: Aging Cell<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1111/acel.13555" target="_blank">http://dx.doi.org/10.1111/acel.13555</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_602de90cc0e6d45a8b9098cce451fc55 |
| identifier_str_mv | 10.1111/acel.13555 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/22258429 |
| publishDate | 2022 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndromeYosra Bejaoui (8552574)Aleem Razzaq (14779189)Noha A. Yousri (1392577)Junko Oshima (1626)Andre Megarbane (3485465)Abeer Qannan (14779192)Ramya Potabattula (4401160)Tanvir Alam (638619)George M. Martin (14779195)Henning F. Horn (14152938)Thomas Haaf (342924)Steve Horvath (28847)Nady El Hajj (686554)Biological sciencesBiochemistry and cell biologyGeneticsBiomedical and clinical sciencesClinical sciencesaccelerated agingDNA methylationepigenetic clockHutchinson–Gilford Progeria syndromeprogeroid laminopathies<p dir="ltr">Hutchinson–Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder caused by mutations in the <i>LMNA</i> gene and characterized by premature and accelerated aging beginning in childhood. In this study, we performed the first genome-wide methylation analysis on blood DNA of 15 patients with progeroid laminopathies using Infinium Methylation EPIC arrays including 8 patients with classical HGPS. We could observe DNA methylation alterations at 61 CpG sites as well as 32 significant regions following a 5 Kb tiling analysis. Differentially methylated probes were enriched for phosphatidylinositol biosynthetic process, phospholipid biosynthetic process, sarcoplasm, sarcoplasmic reticulum, phosphatase regulator activity, glycerolipid biosynthetic process, glycerophospholipid biosynthetic process, and phosphatidylinositol metabolic process. Differential methylation analysis at the level of promoters and CpG islands revealed no significant methylation changes in blood DNA of progeroid laminopathy patients. Nevertheless, we could observe significant methylation differences in classic HGPS when specifically looking at probes overlapping solo-WCGW partially methylated domains. Comparing aberrantly methylated sites in progeroid laminopathies, classic Werner syndrome, and Down syndrome revealed a common significantly hypermethylated region in close vicinity to the transcription start site of a long non-coding RNA located anti-sense to the Catenin Beta Interacting Protein 1 gene (<i>CTNNBIP1</i>). By characterizing epigenetically altered sites, we identify possible pathways/mechanisms that might have a role in the accelerated aging of progeroid laminopathies.</p><h2>Other Information</h2><p dir="ltr">Published in: Aging Cell<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1111/acel.13555" target="_blank">http://dx.doi.org/10.1111/acel.13555</a></p>2022-01-19T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1111/acel.13555https://figshare.com/articles/journal_contribution/DNA_methylation_signatures_in_Blood_DNA_of_Hutchinson_Gilford_Progeria_syndrome/22258429CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/222584292022-01-19T06:00:00Z |
| spellingShingle | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome Yosra Bejaoui (8552574) Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences accelerated aging DNA methylation epigenetic clock Hutchinson–Gilford Progeria syndrome progeroid laminopathies |
| status_str | publishedVersion |
| title | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome |
| title_full | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome |
| title_fullStr | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome |
| title_full_unstemmed | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome |
| title_short | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome |
| title_sort | DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome |
| topic | Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences accelerated aging DNA methylation epigenetic clock Hutchinson–Gilford Progeria syndrome progeroid laminopathies |