Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (660 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
An abnormal congenital condition, associated with defects in the lamin type A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature graying; hair loss; hearing loss (deafness); cataracts (cataract); arthritis; osteoporosis; diabetes mellitus; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary hyaluronic acid; and accelerated atherosclerosis. Many affected individuals develop malignant tumors, especially sarcoma.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Hutchinson-Gilford Syndrome; Hutchinson Gilford Syndrome; Hutchinson Gilford Progeria Syndrome; Hutchinson-Gilford Progeria Syndrome; Hutchinson-Gilford Progeria Syndromes; Progeria Syndrome, Hutchinson-Gilford; Progeria Syndromes, Hutchinson-Gilford.
Where it fits in the MeSH classification
- Broader topics
- Laminopathies; Metabolism, Inborn Errors
- See also
- Cockayne Syndrome; Werner Syndrome
Related concepts
- Lamin Type
- Deafness
- Cataract
- Arthritis
- Osteoporosis
- Diabetes Mellitus
- Hyaluronic Acid
- Atherosclerosis
- Sarcoma
Research landscape
PubMed indexes 1,924 records tagged with the MeSH heading “Progeria” (counts retrieved 2026-10-29). 399 of them (20.7%) were published from 2020 onward, and the busiest period so far is through 1999 with 641 records.
Reviews account for 352 records (18.3%) and meta-analyses for 3. Randomized controlled trials number 1 (0.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 641 |
| 2000-2009 | 315 |
| 2010-2019 | 569 |
| 2020 onward | 399 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 352 | 18.3% |
| Meta-analyses | 3 | 0.2% |
| Randomized controlled trials | 1 | 0.1% |
Method: PubMed query "Progeria"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies | 2018 | Research article Design not recorded in structured metadata | 783 | cc by PMID 30048243 · DOI · PMC6075434 |
| Nucleolar expansion and elevated protein translation in premature aging | 2017 | Research article Design not recorded in structured metadata | 254 | cc by PMID 28855503 · DOI · PMC5577202 |
| The emerging role of alternative splicing in senescence and aging | 2017 | Review article Design not recorded in structured metadata | 164 | cc by PMID 28703423 · DOI · PMC5595669 |
| Transcriptional profiling of Hutchinson-Gilford progeria patients identifies primary target pathways of progerin | 2026 | Research article Design not recorded in structured metadata | 3 | cc0 PMID 41489464 · DOI · PMC12773485 |
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies [1]
Abstract reading summary — source excerpts
- Opening excerpt
- DNA methylation (DNAm)-based biomarkers of aging have been developed for many tissues and organs.
- Closing excerpt
- blood or buccal swabs) and for a quantitative ex vivo human cell aging assay.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (199 words)
DNA methylation (DNAm)-based biomarkers of aging have been developed for many tissues and organs. However, these biomarkers have sub-optimal accuracy in fibroblasts and other cell types used in ex vivo studies. To address this challenge, we developed a novel and highly robust DNAm age estimator (based on 391 CpGs) for human fibroblasts, keratinocytes, buccal cells, endothelial cells, lymphoblastoid cells, skin, blood, and saliva samples. High age correlations can also be observed in sorted neurons, glia, brain, liver, and even bone samples. Gestational age correlates with DNAm age in cord blood. When used on fibroblasts from Hutchinson Gilford Progeria Syndrome patients, this age estimator (referred to as the skin & blood clock) uncovered an epigenetic age acceleration with a magnitude that is below the sensitivity levels of other DNAm-based biomarkers. Furthermore, this highly sensitive age estimator accurately tracked the dynamic aging of cells cultured ex vivo and revealed that their proliferation is accompanied by a steady increase in epigenetic age. The skin & blood clock predicts lifespan and it relates to many age-related conditions. Overall, this biomarker is expected to become useful for forensic applications (e.g. blood or buccal swabs) and for a quantitative ex vivo human cell aging assay.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 30048243 · DOI · PMC6075434
Nucleolar expansion and elevated protein translation in premature aging [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Premature aging disorders provide an opportunity to study the mechanisms that drive aging.
- Closing excerpt
- Here, the authors show that cells from patients with HGPS have expanded nucleoli and increased protein synthesis, and report that nucleoli also expand as aging progresses in cells derived from healthy individuals.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (202 words)
Premature aging disorders provide an opportunity to study the mechanisms that drive aging. In Hutchinson-Gilford progeria syndrome (HGPS), a mutant form of the nuclear scaffold protein lamin A distorts nuclei and sequesters nuclear proteins. We sought to investigate protein homeostasis in this disease. Here, we report a widespread increase in protein turnover in HGPS-derived cells compared to normal cells. We determine that global protein synthesis is elevated as a consequence of activated nucleoli and enhanced ribosome biogenesis in HGPS-derived fibroblasts. Depleting normal lamin A or inducing mutant lamin A expression are each sufficient to drive nucleolar expansion. We further show that nucleolar size correlates with donor age in primary fibroblasts derived from healthy individuals and that ribosomal RNA production increases with age, indicating that nucleolar size and activity can serve as aging biomarkers. While limiting ribosome biogenesis extends lifespan in several systems, we show that increased ribosome biogenesis and activity are a hallmark of premature aging.HGPS is a premature aging disease caused by mutations in the nuclear protein lamin A. Here, the authors show that cells from patients with HGPS have expanded nucleoli and increased protein synthesis, and report that nucleoli also expand as aging progresses in cells derived from healthy individuals.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28855503 · DOI · PMC5577202
The emerging role of alternative splicing in senescence and aging [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Deregulation of precursor mRNA splicing is associated with many illnesses and has been linked to age-related chronic diseases.
- Closing excerpt
- Overall, it is becoming increasingly clear that changes in the activity of splicing factors and in the production of key splice variants can impact cellular senescence and the aging phenotype.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (109 words)
Deregulation of precursor mRNA splicing is associated with many illnesses and has been linked to age-related chronic diseases. Here we review recent progress documenting how defects in the machinery that performs intron removal and controls splice site selection contribute to cellular senescence and organismal aging. We discuss the functional association linking p53, IGF-1, SIRT1, and ING-1 splice variants with senescence and aging, and review a selection of splicing defects occurring in accelerated aging (progeria), vascular aging, and Alzheimer's disease. Overall, it is becoming increasingly clear that changes in the activity of splicing factors and in the production of key splice variants can impact cellular senescence and the aging phenotype.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28703423 · DOI · PMC5595669
Transcriptional profiling of Hutchinson-Gilford progeria patients identifies primary target pathways of progerin [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Hutchinson Gilford Progeria Syndrome (HGPS) is an ultra-rare pediatric premature aging disorder.
- Closing excerpt
- Comparing the transcriptome of patients with an inducible HGPS cell model, we also identified the primary target pathways of the disease-causing progerin protein.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (150 words)
Hutchinson Gilford Progeria Syndrome (HGPS) is an ultra-rare pediatric premature aging disorder. It is caused by a point mutation in the LMNA gene leading to the production of the dominant-negative progerin isoform of the nuclear envelope protein lamin A. Most of the mechanistic insights into the disease have come from studies using cellular or mouse models of HGPS. To probe the clinical relevance of previously implicated cellular pathways and to address the extent of gene expression heterogeneity between patients, we performed transcriptomic analysis of a comprehensive set of HGPS patients. We find misexpression of several cellular pathways, including multiple signaling pathways, the Unfolded Protein Response (UPR) and mesodermal cell fate specification. Variability amongst individual patients was limited, with misregulation of the major pathways observed in most patients. Comparing the transcriptome of patients with an inducible HGPS cell model, we also identified the primary target pathways of the disease-causing progerin protein.
Abstract reproduced from the open-access article under the recorded cc0 licence; © the authors. PMID 41489464 · DOI · PMC12773485
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Hutchinson-Gilford progeria syndrome: review of the phenotype [5]
- Research article Progeria syndromes and ageing: what is the connection? [6]
- Research article Is schizophrenia a syndrome of accelerated aging? [7]
- Research article Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations [8]
- Research article The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature [9]
- Research article Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases [10]
References
- Horvath S, Oshima J, Martin GM, Lu AT, Quach A, Cohen H, et al.. Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies. . 2018. PMID 30048243 · DOI · PMC6075434
- Buchwalter A, Hetzer MW. Nucleolar expansion and elevated protein translation in premature aging. . 2017. PMID 28855503 · DOI · PMC5577202
- Deschênes M, Chabot B. The emerging role of alternative splicing in senescence and aging. . 2017. PMID 28703423 · DOI · PMC5595669
- Vidak S, Kim S, Misteli T. Transcriptional profiling of Hutchinson-Gilford progeria patients identifies primary target pathways of progerin. . 2026. PMID 41489464 · DOI · PMC12773485
- Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006. PMID 16838330 · DOI
- Burtner CR, Kennedy BK. Progeria syndromes and ageing: what is the connection?. Nat Rev Mol Cell Biol. 2010. PMID 20651707 · DOI
- Kirkpatrick B, Messias E, Harvey PD, Fernandez-Egea E, Bowie CR. Is schizophrenia a syndrome of accelerated aging?. Schizophr Bull. 2008. PMID 18156637 · DOI · PMC2632500
- Gonzalo S, Kreienkamp R, Askjaer P. Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations. Ageing Res Rev. 2017. PMID 27374873 · DOI · PMC5195863
- DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr. 1972. PMID 4552697 · DOI
- Kudlow BA, Kennedy BK, Monnat RJ. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat Rev Mol Cell Biol. 2007. PMID 17450177 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.