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Cells
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Advances in Treatments for Hutchinson-Gilford Progeria Syndrome
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Advances in Treatments for Hutchinson-Gilford Progeria Syndrome

A special issue of Cells (ISSN 2073-4409).

Deadline for manuscript submissions: closed (31 October 2023) | Viewed by 8582

Special Issue Editor

Prof. Dr. Bumjoon Park

E-Mail Website
Guest Editor
Department of Molecular Biology, College of Natural Science, Pusan National University, Busan, Republic of Korea
Interests: Hutchinson–Gilford Progeria Syndrome; anti-aging process; laminopathies; antitumor process

Special Issue Information

Dear Colleagues,

Hutchinson–Gilford Progeria Syndrome is an ultra-rare, fatal, “premature aging” disease. A de novo point mutation in the prelamin A gene results in an aberrant spicing and causes the accumulation of the spliced shortened form, progerin, at the nuclear envelope. Progerin is toxic and causes distorted nuclei, cell senescence, aging-related phenotypes, and death in the teenage years from cardiopulmonary arrest or cerebral infarction. Although they appear healthy at birth, most children with Progeria begin to display characteristics of premature aging within the first year of life. It is a milestone for the field that Farnesyltransferase lonafarnib was approved as the first targeted therapy for children with HGPS, but the effect is modest. Therefore, there is an urgent need to understand the more precise mechanisms of HGPS pathology and to develop better treatments for children suffering from HGPS.

This Special Issue will examine new therapeutics for HGPS treatment, novel model mouse systems to help to prove progerin toxicity, methods to advance a better understanding of HGPS cells or progerin protein, organ-specific pathology of HGPS, modulation of cytokine signaling in HGPS, and genome structure in HGPS.

Prof. Dr. Bumjoon Park
Guest Editor

Manuscript Submission Information

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Keywords

  • aging
  • Hutchinson–Gilford Progeria Syndrome
  • progerin
  • lamin A
  • senescence
  • therapeutics
  • model mouse

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Published Papers (3 papers)

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Research

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13 pages, 2001 KiB  
Communication
Progerinin, an Inhibitor of Progerin, Alleviates Cardiac Abnormalities in a Model Mouse of Hutchinson–Gilford Progeria Syndrome
by So-mi Kang, Seungwoon Seo, Eun Ju Song, Okhee Kweon, Ah-hyeon Jo, Soyoung Park, Tae-Gyun Woo, Bae-Hoon Kim, Goo Taeg Oh and Bum-Joon Park
Cells 2023, 12(9), 1232; https://doi.org/10.3390/cells12091232 - 24 Apr 2023
Cited by 2 | Viewed by 2543
Abstract
Hutchinson–Gilford Progeria Syndrome (HGPS) is an ultra-rare human premature aging disorder that precipitates death because of cardiac disease. Almost all cases of HGPS are caused by aberrant splicing of the LMNA gene that results in the production of a mutant Lamin A protein [...] Read more.
Hutchinson–Gilford Progeria Syndrome (HGPS) is an ultra-rare human premature aging disorder that precipitates death because of cardiac disease. Almost all cases of HGPS are caused by aberrant splicing of the LMNA gene that results in the production of a mutant Lamin A protein termed progerin. In our previous study, treatment with Progerinin has been shown to reduce progerin expression and improve aging phenotypes in vitro and in vivo HGPS models. In this record, cardiac parameters (stroke volume (SV), ejection fraction (EF), fractional shortening (FS), etc.) were acquired in LmnaWT/WT and LmnaG609G/WT mice fed with either a vehicle diet or a Progerinin diet by echocardiography (from 38 weeks to 50 weeks at various ages), and then the cardiac function was analyzed. We also acquired the tissue samples and blood serum of LmnaWT/WT and LmnaG609G/WT mice for pathological analysis at the end of echocardiography. From these data, we suggest that the administration of Progerinin in the HGPS model mouse can restore cardiac function and correct arterial abnormalities. These observations provide encouraging evidence for the efficacy of Progerinin for cardiac dysfunction in HGPS. Full article
(This article belongs to the Special Issue Advances in Treatments for Hutchinson-Gilford Progeria Syndrome)
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Review

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17 pages, 737 KiB  
Review
Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS
by Bae-Hoon Kim, Yeon-Ho Chung, Tae-Gyun Woo, So-Mi Kang, Soyoung Park and Bum-Joon Park
Cells 2023, 12(18), 2299; https://doi.org/10.3390/cells12182299 - 18 Sep 2023
Cited by 1 | Viewed by 3107
Abstract
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of the LMNA gene. HGPS affects systemic levels, with the exception of cognition or brain development, in children, showing that [...] Read more.
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of the LMNA gene. HGPS affects systemic levels, with the exception of cognition or brain development, in children, showing that cellular aging can occur in the short term. Studying progeria could be useful in unraveling the causes of human aging (as well as fatal age-related disorders). Elucidating the clear cause of HGPS or the development of a therapeutic medicine could improve the quality of life and extend the survival of patients. This review aimed to (i) briefly describe how progerin was discovered as the causative agent of HGPS, (ii) elucidate the puzzling observation of the absence of primary neurological disease in HGPS, (iii) present several studies showing the deleterious effects of progerin and the beneficial effects of its inhibition, and (iv) summarize research to develop a therapy for HGPS and introduce clinical trials for its treatment. Full article
(This article belongs to the Special Issue Advances in Treatments for Hutchinson-Gilford Progeria Syndrome)
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13 pages, 832 KiB  
Review
The Interplay between Oxidative Stress and the Nuclear Lamina Contributes to Laminopathies and Age-Related Diseases
by Lidya Kristiani and Youngjo Kim
Cells 2023, 12(9), 1234; https://doi.org/10.3390/cells12091234 - 25 Apr 2023
Cited by 6 | Viewed by 2089
Abstract
Oxidative stress is a physiological condition that arises when there is an imbalance between the production of reactive oxygen species (ROS) and the ability of cells to neutralize them. ROS can damage cellular macromolecules, including lipids, proteins, and DNA, leading to cellular senescence [...] Read more.
Oxidative stress is a physiological condition that arises when there is an imbalance between the production of reactive oxygen species (ROS) and the ability of cells to neutralize them. ROS can damage cellular macromolecules, including lipids, proteins, and DNA, leading to cellular senescence and physiological aging. The nuclear lamina (NL) is a meshwork of intermediate filaments that provides structural support to the nucleus and plays crucial roles in various nuclear functions, such as DNA replication and transcription. Emerging evidence suggests that oxidative stress disrupts the integrity and function of the NL, leading to dysregulation of gene expression, DNA damage, and cellular senescence. This review highlights the current understanding of the interplay between oxidative stress and the NL, along with its implications for human health. Specifically, elucidation of the mechanisms underlying the interplay between oxidative stress and the NL is essential for the development of effective treatments for laminopathies and age-related diseases. Full article
(This article belongs to the Special Issue Advances in Treatments for Hutchinson-Gilford Progeria Syndrome)
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