Evidence map›Paper›PMID 42538566›Full record

ArticleGenome medicine2026

Single-cell analysis of the progeria arterial wall reveals progerin-induced progressive, cell type-specific dysfunction and somatic mutation accumulation.

Lara G Merino, Gwladys Revêchon, Santhilal Subhash, Fabiana Stefani, Daniel Whisenant, Marianna Skipitari, Quentin Giraud, Lars Muhl, Giuseppe Mocci, Johan Björkegren and 4 more

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In one paragraph

Article in Genome medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Lara G MerinoDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden. lara.garcia.merino@ki.se.
Gwladys Revêchon *Department of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Santhilal Subhash *Department of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Fabiana Stefani *Department of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Daniel Whisenant *Department of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Marianna SkipitariDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Quentin GiraudDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Lars MuhlDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Giuseppe MocciDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Johan BjörkegrenDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Piotr MachtelDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Liqun HeDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Christer BetsholtzDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden.
Maria ErikssonDepartment of Medicine Huddinge, 141 83, Huddinge, Karolinska Institutet, Sweden. maria.eriksson.2@ki.se.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe premature aging disorder Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by de novo LMNA mutations producing the aberrant Lamin A isoform progerin. HGPS patients die from cardiovascular disease, with their arteries showing extensive cellular and structural remodeling, but the mechanisms driving vascular dysfunction are not fully understood.

methodsTo define molecular processes underlying progressive vascular degeneration in HGPS, we performed single-cell RNA-sequencing (scRNA-seq) of aortic arch cells from Lmna

resultsThe aortic arch of Lmna

conclusionsOur study shows that progerin leads to somatic mutation accumulation particularly in VSMCs, highlighting the need for early, cell-type-specific therapeutic intervention in HGPS to prevent permanent vascular tissue damage. In addition, the cell-type-specific molecular dynamics of the aortic arch VSMCs and fibroblasts during HGPS disease progression are provided in a user-friendly searchable scRNA-seq database available for preclinical research targeting vascular aging.

Indexed as

ArteriesLamin Type AMutationProgeriaSingle-Cell AnalysisAnimalsDisease Models, AnimalHumansMiceMuscle, Smooth, VascularSingle-Cell Gene Expression AnalysisLamin Type AArterial wallCardiovascular diseaseHutchinson-Gilford progeria syndromePremature vascular agingSingle-cell RNA sequencingSmart-seq2Somatic mutations

Identifiers

PMID42538566
PMCPMC13425876

What Socratic holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

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 Socratic graph.