Evidence map›Paper›PMID 35045206›Full record

ArticleAging cell2022

DNA methylation signatures in Blood DNA of Hutchinson-Gilford Progeria syndrome.

Yosra Bejaoui, Aleem Razzaq, Noha A Yousri, Junko Oshima, Andre Megarbane, Abeer Qannan, Ramya Potabattula, Tanvir Alam, George M Martin, Henning F Horn and 3 more

Open access · goldAbstract read
In one paragraph

Article in Aging cell, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.6field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. The impact of COVID-19 on "biological aging".Frontiers in immunology · 2024
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Review
  16. Article
  17. Subjective Overview of Accelerated Aging in Schizophrenia.International journal of environmental research and public health · 2022
    Review
  18. Review
  19. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 6 institutions in 5 countries.

Yosra BejaouiCollege of Health and Life Sciences, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.
Aleem RazzaqCollege of Health and Life Sciences, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.
Noha A YousriGenetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar.
Junko OshimaDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.ORCID 0000-0001-5941-3799
Andre MegarbaneDepartment of Human Genetics, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Abeer QannanCollege of Health and Life Sciences, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.
Ramya PotabattulaInstitute of Human Genetics, Julius Maximilians University, Würzburg, Germany.ORCID 0000-0002-2858-8104
Tanvir AlamCollege of Science and Engineering, Hamad Bin Khalifa University, Doha, Qatar.
George M MartinDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.ORCID 0000-0002-7974-818X
Henning F HornCollege of Health and Life Sciences, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.
Thomas HaafInstitute of Human Genetics, Julius Maximilians University, Würzburg, Germany.ORCID 0000-0002-0737-0763
Steve HorvathDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.ORCID 0000-0002-4110-3589
Nady El HajjCollege of Health and Life Sciences, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.ORCID 0000-0003-3420-8531
Hamad bin Khalifa University · QAChiba University · JPFondation Jérôme-Lejeune · FRUniversity of California, Los Angeles · USUniversity of Washington · USWeill Cornell Medical College in Qatar · QA

Funding

International Registry of Werner SyndromeR01CA210916 · NCI · UNIVERSITY OF WASHINGTON · PI JUNKO OSHIMA · 2016 to 2026
$3.8M
Validation and optimization of epigenetic clocksU01AG060908 · NIA · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI RITZ, BEATE R. · 2018 to 2022
$3.4M
NCI NIH HHS R01 CA210916NIA NIH HHS U01 AG060908NIH HHS R01CA210916
6 · The paper itself

Abstract

Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder caused by mutations in the LMNA 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 (CTNNBIP1). By characterizing epigenetically altered sites, we identify possible pathways/mechanisms that might have a role in the accelerated aging of progeroid laminopathies.

Indexed as

ProgeriaWerner SyndromeAgingDNADNA MethylationHumansLamin Type AMutationDNALamin Type Aaccelerated agingDNA methylationepigenetic clockHutchinson-Gilford Progeria syndromeprogeroid laminopathies

Identifiers

PMID35045206
PMCPMC8844112
OpenAlexW4206737863

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.