Loading…

Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS

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 cellula...

Full description

Saved in:
Bibliographic Details
Published in:Cells (Basel, Switzerland) Switzerland), 2023-09, Vol.12 (18), p.2299
Main Authors: Kim, Bae-Hoon, Chung, Yeon-Ho, Woo, Tae-Gyun, Kang, So-Mi, Park, Soyoung, Park, Bum-Joon
Format: Article
Language:English
Subjects:
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites cdi_FETCH-LOGICAL-c482t-9be0834e48dc5c40efffc765a57a4285f8a1c758ecd7c56d02e01b5444b268aa3
container_end_page
container_issue 18
container_start_page 2299
container_title Cells (Basel, Switzerland)
container_volume 12
creator Kim, Bae-Hoon
Chung, Yeon-Ho
Woo, Tae-Gyun
Kang, So-Mi
Park, Soyoung
Park, Bum-Joon
description 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.
doi_str_mv 10.3390/cells12182299
format article
fullrecord <record><control><sourceid>gale_doaj_</sourceid><recordid>TN_cdi_doaj_primary_oai_doaj_org_article_9758cbf21f0e476ba0806b433453a984</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A766928229</galeid><doaj_id>oai_doaj_org_article_9758cbf21f0e476ba0806b433453a984</doaj_id><sourcerecordid>A766928229</sourcerecordid><originalsourceid>FETCH-LOGICAL-c482t-9be0834e48dc5c40efffc765a57a4285f8a1c758ecd7c56d02e01b5444b268aa3</originalsourceid><addsrcrecordid>eNptkk1v1DAQhiMEElXpkbslLhya4s_EOaFVRduVVmKlLgdO1sQZp14l8WInSPx7vGwFLMI-2Jp557HnoyjeMnojREM_WByGxDjTnDfNi-KC01qUUtLm5V_318VVSnual2YVo-qi-LqNocfop2sCE1m1GCNMM3k8DN5iR-5CHElwZAOjz-5rsk4EyDbMOM0eBrJ7wggHXGZvyQ5ijzNxIZKH--3jm-KVgyHh1fN5WXy5-7S7fSg3n-_Xt6tNaaXmc9m0SLWQKHVnlZUUnXO2rhSoGiTXymlgtlYabVdbVXWUI2WtklK2vNIA4rJYn7hdgL05RD9C_GECePPLEGJvIOb_DWiazLGt48xRlHXVAtW0aqUQUglotMysjyfWYWlH7GzOMsJwBj33TP7J9OG7ybXktaxoJrx_JsTwbcE0m9GnY29gwrAkw3VNmRScV1n67h_pPixxyrXKqqrhjeZM_VH1kDPwkwv5YXuEmlVdZdmx4Vl18x9V3h2O3oYJnc_2s4DyFGBjSCmi-50ko-Y4UOZsoMRPgQe6_A</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2869298215</pqid></control><display><type>article</type><title>Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS</title><source>PubMed (Medline)</source><source>Publicly Available Content Database</source><creator>Kim, Bae-Hoon ; Chung, Yeon-Ho ; Woo, Tae-Gyun ; Kang, So-Mi ; Park, Soyoung ; Park, Bum-Joon</creator><creatorcontrib>Kim, Bae-Hoon ; Chung, Yeon-Ho ; Woo, Tae-Gyun ; Kang, So-Mi ; Park, Soyoung ; Park, Bum-Joon</creatorcontrib><description>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.</description><identifier>ISSN: 2073-4409</identifier><identifier>EISSN: 2073-4409</identifier><identifier>DOI: 10.3390/cells12182299</identifier><language>eng</language><publisher>Basel: MDPI AG</publisher><subject>Aging ; Amino acids ; Clinical trials ; Cognition ; Disease ; DNA damage ; DNA methylation ; Drug targeting ; Drug therapy ; Fibroblasts ; Gene expression ; Genetic disorders ; Genotype &amp; phenotype ; Health aspects ; Hutchinson–Gilford progeria syndrome ; Intermediate filament proteins ; Methods ; Mutation ; Neurological diseases ; nuclear lamina ; Patients ; Progeria ; progerin ; Proteins ; Quality of life ; Review ; Senescence ; Telomerase ; Therapeutic targets</subject><ispartof>Cells (Basel, Switzerland), 2023-09, Vol.12 (18), p.2299</ispartof><rights>COPYRIGHT 2023 MDPI AG</rights><rights>2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2023 by the authors. 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c482t-9be0834e48dc5c40efffc765a57a4285f8a1c758ecd7c56d02e01b5444b268aa3</cites><orcidid>0000-0002-6037-7219 ; 0000-0001-6866-7248</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2869298215/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2869298215?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793,75126</link.rule.ids></links><search><creatorcontrib>Kim, Bae-Hoon</creatorcontrib><creatorcontrib>Chung, Yeon-Ho</creatorcontrib><creatorcontrib>Woo, Tae-Gyun</creatorcontrib><creatorcontrib>Kang, So-Mi</creatorcontrib><creatorcontrib>Park, Soyoung</creatorcontrib><creatorcontrib>Park, Bum-Joon</creatorcontrib><title>Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS</title><title>Cells (Basel, Switzerland)</title><description>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.</description><subject>Aging</subject><subject>Amino acids</subject><subject>Clinical trials</subject><subject>Cognition</subject><subject>Disease</subject><subject>DNA damage</subject><subject>DNA methylation</subject><subject>Drug targeting</subject><subject>Drug therapy</subject><subject>Fibroblasts</subject><subject>Gene expression</subject><subject>Genetic disorders</subject><subject>Genotype &amp; phenotype</subject><subject>Health aspects</subject><subject>Hutchinson–Gilford progeria syndrome</subject><subject>Intermediate filament proteins</subject><subject>Methods</subject><subject>Mutation</subject><subject>Neurological diseases</subject><subject>nuclear lamina</subject><subject>Patients</subject><subject>Progeria</subject><subject>progerin</subject><subject>Proteins</subject><subject>Quality of life</subject><subject>Review</subject><subject>Senescence</subject><subject>Telomerase</subject><subject>Therapeutic targets</subject><issn>2073-4409</issn><issn>2073-4409</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkk1v1DAQhiMEElXpkbslLhya4s_EOaFVRduVVmKlLgdO1sQZp14l8WInSPx7vGwFLMI-2Jp557HnoyjeMnojREM_WByGxDjTnDfNi-KC01qUUtLm5V_318VVSnual2YVo-qi-LqNocfop2sCE1m1GCNMM3k8DN5iR-5CHElwZAOjz-5rsk4EyDbMOM0eBrJ7wggHXGZvyQ5ijzNxIZKH--3jm-KVgyHh1fN5WXy5-7S7fSg3n-_Xt6tNaaXmc9m0SLWQKHVnlZUUnXO2rhSoGiTXymlgtlYabVdbVXWUI2WtklK2vNIA4rJYn7hdgL05RD9C_GECePPLEGJvIOb_DWiazLGt48xRlHXVAtW0aqUQUglotMysjyfWYWlH7GzOMsJwBj33TP7J9OG7ybXktaxoJrx_JsTwbcE0m9GnY29gwrAkw3VNmRScV1n67h_pPixxyrXKqqrhjeZM_VH1kDPwkwv5YXuEmlVdZdmx4Vl18x9V3h2O3oYJnc_2s4DyFGBjSCmi-50ko-Y4UOZsoMRPgQe6_A</recordid><startdate>20230901</startdate><enddate>20230901</enddate><creator>Kim, Bae-Hoon</creator><creator>Chung, Yeon-Ho</creator><creator>Woo, Tae-Gyun</creator><creator>Kang, So-Mi</creator><creator>Park, Soyoung</creator><creator>Park, Bum-Joon</creator><general>MDPI AG</general><general>MDPI</general><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-6037-7219</orcidid><orcidid>https://orcid.org/0000-0001-6866-7248</orcidid></search><sort><creationdate>20230901</creationdate><title>Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS</title><author>Kim, Bae-Hoon ; Chung, Yeon-Ho ; Woo, Tae-Gyun ; Kang, So-Mi ; Park, Soyoung ; Park, Bum-Joon</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c482t-9be0834e48dc5c40efffc765a57a4285f8a1c758ecd7c56d02e01b5444b268aa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Aging</topic><topic>Amino acids</topic><topic>Clinical trials</topic><topic>Cognition</topic><topic>Disease</topic><topic>DNA damage</topic><topic>DNA methylation</topic><topic>Drug targeting</topic><topic>Drug therapy</topic><topic>Fibroblasts</topic><topic>Gene expression</topic><topic>Genetic disorders</topic><topic>Genotype &amp; phenotype</topic><topic>Health aspects</topic><topic>Hutchinson–Gilford progeria syndrome</topic><topic>Intermediate filament proteins</topic><topic>Methods</topic><topic>Mutation</topic><topic>Neurological diseases</topic><topic>nuclear lamina</topic><topic>Patients</topic><topic>Progeria</topic><topic>progerin</topic><topic>Proteins</topic><topic>Quality of life</topic><topic>Review</topic><topic>Senescence</topic><topic>Telomerase</topic><topic>Therapeutic targets</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kim, Bae-Hoon</creatorcontrib><creatorcontrib>Chung, Yeon-Ho</creatorcontrib><creatorcontrib>Woo, Tae-Gyun</creatorcontrib><creatorcontrib>Kang, So-Mi</creatorcontrib><creatorcontrib>Park, Soyoung</creatorcontrib><creatorcontrib>Park, Bum-Joon</creatorcontrib><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>ProQuest Biological Science Journals</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Cells (Basel, Switzerland)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kim, Bae-Hoon</au><au>Chung, Yeon-Ho</au><au>Woo, Tae-Gyun</au><au>Kang, So-Mi</au><au>Park, Soyoung</au><au>Park, Bum-Joon</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS</atitle><jtitle>Cells (Basel, Switzerland)</jtitle><date>2023-09-01</date><risdate>2023</risdate><volume>12</volume><issue>18</issue><spage>2299</spage><pages>2299-</pages><issn>2073-4409</issn><eissn>2073-4409</eissn><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 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.</abstract><cop>Basel</cop><pub>MDPI AG</pub><doi>10.3390/cells12182299</doi><orcidid>https://orcid.org/0000-0002-6037-7219</orcidid><orcidid>https://orcid.org/0000-0001-6866-7248</orcidid><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 2073-4409
ispartof Cells (Basel, Switzerland), 2023-09, Vol.12 (18), p.2299
issn 2073-4409
2073-4409
language eng
recordid cdi_doaj_primary_oai_doaj_org_article_9758cbf21f0e476ba0806b433453a984
source PubMed (Medline); Publicly Available Content Database
subjects Aging
Amino acids
Clinical trials
Cognition
Disease
DNA damage
DNA methylation
Drug targeting
Drug therapy
Fibroblasts
Gene expression
Genetic disorders
Genotype & phenotype
Health aspects
Hutchinson–Gilford progeria syndrome
Intermediate filament proteins
Methods
Mutation
Neurological diseases
nuclear lamina
Patients
Progeria
progerin
Proteins
Quality of life
Review
Senescence
Telomerase
Therapeutic targets
title Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-24T23%3A00%3A48IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_doaj_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Progerin,%20an%20Aberrant%20Spliced%20Form%20of%20Lamin%20A,%20Is%20a%20Potential%20Therapeutic%20Target%20for%20HGPS&rft.jtitle=Cells%20(Basel,%20Switzerland)&rft.au=Kim,%20Bae-Hoon&rft.date=2023-09-01&rft.volume=12&rft.issue=18&rft.spage=2299&rft.pages=2299-&rft.issn=2073-4409&rft.eissn=2073-4409&rft_id=info:doi/10.3390/cells12182299&rft_dat=%3Cgale_doaj_%3EA766928229%3C/gale_doaj_%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c482t-9be0834e48dc5c40efffc765a57a4285f8a1c758ecd7c56d02e01b5444b268aa3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2869298215&rft_id=info:pmid/&rft_galeid=A766928229&rfr_iscdi=true