Werner and Hutchinson–Gilford progeria syndromes: mechanistic basis of human progeroid diseases

Kudlow, Brian A.; Kennedy, Brian K.; Monnat, Raymond J.

doi:10.1038/nrm2161

Cited by 305Nuclear Structure and FunctionTelomeres, Telomerase, and SenescenceGenetics, Aging, and Longevity in Model Organisms

Werner and Hutchinson–Gilford progeria syndromes: mechanistic basis of human progeroid diseases

Kudlow, Brian A., Kennedy, Brian K., Monnat, Raymond J.·2007·Nature Reviews Molecular Cell Biology

DOI 10.1038/nrm2161

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Abstract

Progeroid syndromes have been the focus of intense research in part because they might provide a window into the pathology of normal ageing. Werner syndrome and Hutchinson-Gilford progeria syndrome are two of the best characterized human progeroid diseases. Mutated genes that are associated with these syndromes have been identified, mouse models of disease have been developed, and molecular studies have implicated decreased cell proliferation and altered DNA-damage responses as common causal mechanisms in the pathogenesis of both diseases.

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Progerin is a truncated lamin A with a hydrophobic farnesylated C-terminal.
“The aberrantly processed protein produced is called progerin, a truncated form of lamin A with a hydrophobic farnesylated C-terminal 105–112.”
From Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation (2017) · cites this paper as [107]
HGPS patients suffer laminopathy due to a sporadic deficiency in proteolytic processing of prelamin A into mature lamin A.
“Hutchison-Gilford progeria syndrome (HGPS) patients suffer from a variety of laminopathy ailments due to a sporadic deficiency in the proteolytic processing of the precursor form of lamin A into the mature protein.”
From Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation (2017) · cites this paper as [107]
HGPS and RD are laminopathy-based diseases arising from mutations causing altered processing/maturation of lamin A, not from mutated DNA metabolism genes.
“Interestingly, HGPS and RD are laminopathy-based diseases; they arise not from mutated DNA metabolism genes but from mutations causing altered processing/maturation of lamin A, an intermediate-filament protein component of the nuclear lamina [6,11-16].”
From Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A (2009) · cites this paper as [6]
Progerin and FC-prelamin A, the mutant forms of lamin A in HGPS and RD cells, disrupt normal nuclear structure including perinucleolar lamin A/C granules containing the replicative proteins PCNA and polymerase δ.
“Progerin and FC-prelamin A, the mutant forms of lamin A in HGPS and RD cells, respectively (Figure 1; [6,11-16]), are known to disrupt normal nuclear structure including the perinucleolar lamin A/C granules containing the replicative proteins PCNA and polymerase δ [33].”
From Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A (2009) · cites this paper as [6]
Changes in chromatin state have been strongly implicated in ageing by progeroid syndromes, which disrupt the nuclear lamina and its associated regulation of heterochromatin structure.
“Nonetheless, changes in chromatin state have been strongly implicated in ageing by progeroid syndromes, which disrupt the nuclear lamina and its associated regulation of heterochromatin structure142,143.”
From Measuring biological age using omics data (2022) · cites this paper as [142]

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“” If this conclusion is correct, how likely is it that the knowledge gained studying WS or HGPS will provide general insights into the biology of ageing or the pathogenesis of age-associated disease? One view is that progeroid syndromes represent phenocopies of what we are really interested in: the mechanisms that und…”
Background
Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference
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The Enzymatic Activities of the Werner Syndrome Protein Are Disabled by the Amino Acid Polymorphism R834C
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Increased Elastin Production by Progeria Skin Fibroblasts is Controlled by the Steady-State Levels of Elastin mRNA
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Aggrecan expression is substantially and abnormally upregulated in Hutchinson–Gilford Progeria Syndrome dermal fibroblasts
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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
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Authors: Kudlow, B. A., Kennedy, B. K., & Monnat, R. J.
Affiliations: University of Washington (US)
Corresponding author: Kennedy, Brian K.
Monnat, Raymond J.
ORCID: Kennedy, Brian K.
Monnat, Raymond J.
Venue: Nature Reviews Molecular Cell Biology
Publisher: Springer Science and Business Media LLC
Published: 2007-05
Volume: 8
Issue: 5
Pages: 394-404
ISSN: 1471-0072 (ISSN-L)
1471-0080
DOI: 10.1038/nrm2161
OpenAlex: W2163819508
Cited by: 304
References: 110
Citations by year: 2026: 10 · 2025: 8 · 2024: 12 · 2023: 12 · 2022: 17 · 2021: 11 · 2020: 14 · 2019: 13 · 2018: 18 · 2017: 12 · 2016: 17 · 2015: 14 · 2014: 10 · 2013: 14 · 2012: 14
FWCI: 2.28
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Molecular Cell Biology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
Keywords: Werner syndrome, Hutchinson-Gilford progeria syndrome, progeroid syndromes, premature aging, DNA damage response, cell proliferation, mouse models of human disease, genetic mutations, normal aging
MeSH terms: Werner Syndrome Helicase, Aging, Animals, Disease Models, Animal, DNA Damage, Exodeoxyribonucleases, Humans, Models, Biological, Phenotype, Progeria, Protein Processing, Post-Translational, Werner Syndrome, Lamin Type A, RecQ Helicases

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Werner and Hutchinson–Gilford progeria syndromes: mechanistic basis of human progeroid diseases

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