Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms

Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. It is caused by mitochondrial DNA (mtDNA) rearrangements, mostly large-scale deletions of 1.1–10 kb. These deletions primarily affect energy supply through impaired oxidative phosphorylation and reduced ATP production. This im...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Molecular neurobiology 2024-08, Vol.61 (8), p.5665-5679
1. Verfasser: Yazdani, Mazyar
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 5679
container_issue 8
container_start_page 5665
container_title Molecular neurobiology
container_volume 61
creator Yazdani, Mazyar
description Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. It is caused by mitochondrial DNA (mtDNA) rearrangements, mostly large-scale deletions of 1.1–10 kb. These deletions primarily affect energy supply through impaired oxidative phosphorylation and reduced ATP production. This impairment gives rise to dysfunction of several tissues, in particular those with high energy demand like brain and muscles. Over the past decades, changes in respiratory chain complexes and energy metabolism have been emphasized, whereas little attention has been paid to other reports on ROS overproduction, protein synthesis inhibition, myelin vacuolation, demyelination, autophagy, apoptosis, and involvement of lipid raft and oligodendrocytes in KSS. Therefore, this paper draws attention towards these relatively underemphasized findings that might further clarify the pathologic cascades following deletions in the mtDNA.
doi_str_mv 10.1007/s12035-024-03938-7
format Article
fullrecord <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_2914250699</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3080901583</sourcerecordid><originalsourceid>FETCH-LOGICAL-p213t-e5818fd8580414954276254f8e9cdca19cbcd2f6076a1e00726c2a74c89acde83</originalsourceid><addsrcrecordid>eNpdkU1vFDEMhqMKRLctf6AHFIkLlxTnaybhVm3ph-iCxNJzlGa87VQzyZLMHPbfk3aLkPDBluVHlv2-hJxyOOMA7efCBUjNQCgG0krD2gOy4FpbxrkRb8gCjJWsbZQ5JEelPAEIwaF9Rw6lEULVWJBpicMwDz5THzu6SgOGl-4nlm2KBQudEl31UwqPKXa59wO9-H5OL3DAqa8A7SP9hj7HwtZ-l5GudxVLI36h65rpXewwD7s-PtAVhkcf-zKWE_J244eC71_rMbm7_Pprec1uf1zdLM9v2VZwOTHUhptNZ7QBxZXVSrSN0Gpj0IYueG7DfejEpoG28RyrIqIJwrcqGOtDh0Yek0_7vducfs9YJjf2JdSHfcQ0FycsV0JDY21FP_6HPqU5x3qdk2DAAtdGVurDKzXfj9i5be5Hn3fur54VkHug1FF8wPxvDQf37Jrbu-aqa-7FNdfKP6SLh5g</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3080901583</pqid></control><display><type>article</type><title>Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms</title><source>MEDLINE</source><source>SpringerLink Journals</source><creator>Yazdani, Mazyar</creator><creatorcontrib>Yazdani, Mazyar</creatorcontrib><description>Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. It is caused by mitochondrial DNA (mtDNA) rearrangements, mostly large-scale deletions of 1.1–10 kb. These deletions primarily affect energy supply through impaired oxidative phosphorylation and reduced ATP production. This impairment gives rise to dysfunction of several tissues, in particular those with high energy demand like brain and muscles. Over the past decades, changes in respiratory chain complexes and energy metabolism have been emphasized, whereas little attention has been paid to other reports on ROS overproduction, protein synthesis inhibition, myelin vacuolation, demyelination, autophagy, apoptosis, and involvement of lipid raft and oligodendrocytes in KSS. Therefore, this paper draws attention towards these relatively underemphasized findings that might further clarify the pathologic cascades following deletions in the mtDNA.</description><identifier>ISSN: 0893-7648</identifier><identifier>ISSN: 1559-1182</identifier><identifier>EISSN: 1559-1182</identifier><identifier>DOI: 10.1007/s12035-024-03938-7</identifier><identifier>PMID: 38224444</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Animals ; Apoptosis ; Autophagy ; Biomedical and Life Sciences ; Biomedicine ; Biopsy ; Brain research ; Cell Biology ; Demyelination ; Disease ; DNA, Mitochondrial - genetics ; DNA, Mitochondrial - metabolism ; Electron transport ; Energy ; Energy metabolism ; Genetic testing ; Humans ; Kearns-Sayre Syndrome - genetics ; Laboratories ; Metabolism ; Mitochondria ; Mitochondria - genetics ; Mitochondria - metabolism ; Mitochondrial DNA ; Muscles ; Mutation ; Myelin ; Neurobiology ; Neurology ; Neurosciences ; Oligodendrocytes ; Oxidative phosphorylation ; Phosphorylation ; Protein biosynthesis ; Protein synthesis ; Protein turnover ; Proteins ; Sequence Deletion</subject><ispartof>Molecular neurobiology, 2024-08, Vol.61 (8), p.5665-5679</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-p213t-e5818fd8580414954276254f8e9cdca19cbcd2f6076a1e00726c2a74c89acde83</cites><orcidid>0000-0002-9187-3231</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12035-024-03938-7$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12035-024-03938-7$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38224444$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yazdani, Mazyar</creatorcontrib><title>Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms</title><title>Molecular neurobiology</title><addtitle>Mol Neurobiol</addtitle><addtitle>Mol Neurobiol</addtitle><description>Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. It is caused by mitochondrial DNA (mtDNA) rearrangements, mostly large-scale deletions of 1.1–10 kb. These deletions primarily affect energy supply through impaired oxidative phosphorylation and reduced ATP production. This impairment gives rise to dysfunction of several tissues, in particular those with high energy demand like brain and muscles. Over the past decades, changes in respiratory chain complexes and energy metabolism have been emphasized, whereas little attention has been paid to other reports on ROS overproduction, protein synthesis inhibition, myelin vacuolation, demyelination, autophagy, apoptosis, and involvement of lipid raft and oligodendrocytes in KSS. Therefore, this paper draws attention towards these relatively underemphasized findings that might further clarify the pathologic cascades following deletions in the mtDNA.</description><subject>Animals</subject><subject>Apoptosis</subject><subject>Autophagy</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Biopsy</subject><subject>Brain research</subject><subject>Cell Biology</subject><subject>Demyelination</subject><subject>Disease</subject><subject>DNA, Mitochondrial - genetics</subject><subject>DNA, Mitochondrial - metabolism</subject><subject>Electron transport</subject><subject>Energy</subject><subject>Energy metabolism</subject><subject>Genetic testing</subject><subject>Humans</subject><subject>Kearns-Sayre Syndrome - genetics</subject><subject>Laboratories</subject><subject>Metabolism</subject><subject>Mitochondria</subject><subject>Mitochondria - genetics</subject><subject>Mitochondria - metabolism</subject><subject>Mitochondrial DNA</subject><subject>Muscles</subject><subject>Mutation</subject><subject>Myelin</subject><subject>Neurobiology</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Oligodendrocytes</subject><subject>Oxidative phosphorylation</subject><subject>Phosphorylation</subject><subject>Protein biosynthesis</subject><subject>Protein synthesis</subject><subject>Protein turnover</subject><subject>Proteins</subject><subject>Sequence Deletion</subject><issn>0893-7648</issn><issn>1559-1182</issn><issn>1559-1182</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkU1vFDEMhqMKRLctf6AHFIkLlxTnaybhVm3ph-iCxNJzlGa87VQzyZLMHPbfk3aLkPDBluVHlv2-hJxyOOMA7efCBUjNQCgG0krD2gOy4FpbxrkRb8gCjJWsbZQ5JEelPAEIwaF9Rw6lEULVWJBpicMwDz5THzu6SgOGl-4nlm2KBQudEl31UwqPKXa59wO9-H5OL3DAqa8A7SP9hj7HwtZ-l5GudxVLI36h65rpXewwD7s-PtAVhkcf-zKWE_J244eC71_rMbm7_Pprec1uf1zdLM9v2VZwOTHUhptNZ7QBxZXVSrSN0Gpj0IYueG7DfejEpoG28RyrIqIJwrcqGOtDh0Yek0_7vducfs9YJjf2JdSHfcQ0FycsV0JDY21FP_6HPqU5x3qdk2DAAtdGVurDKzXfj9i5be5Hn3fur54VkHug1FF8wPxvDQf37Jrbu-aqa-7FNdfKP6SLh5g</recordid><startdate>20240801</startdate><enddate>20240801</enddate><creator>Yazdani, Mazyar</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7QR</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9187-3231</orcidid></search><sort><creationdate>20240801</creationdate><title>Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms</title><author>Yazdani, Mazyar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p213t-e5818fd8580414954276254f8e9cdca19cbcd2f6076a1e00726c2a74c89acde83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Animals</topic><topic>Apoptosis</topic><topic>Autophagy</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Biopsy</topic><topic>Brain research</topic><topic>Cell Biology</topic><topic>Demyelination</topic><topic>Disease</topic><topic>DNA, Mitochondrial - genetics</topic><topic>DNA, Mitochondrial - metabolism</topic><topic>Electron transport</topic><topic>Energy</topic><topic>Energy metabolism</topic><topic>Genetic testing</topic><topic>Humans</topic><topic>Kearns-Sayre Syndrome - genetics</topic><topic>Laboratories</topic><topic>Metabolism</topic><topic>Mitochondria</topic><topic>Mitochondria - genetics</topic><topic>Mitochondria - metabolism</topic><topic>Mitochondrial DNA</topic><topic>Muscles</topic><topic>Mutation</topic><topic>Myelin</topic><topic>Neurobiology</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Oligodendrocytes</topic><topic>Oxidative phosphorylation</topic><topic>Phosphorylation</topic><topic>Protein biosynthesis</topic><topic>Protein synthesis</topic><topic>Protein turnover</topic><topic>Proteins</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yazdani, Mazyar</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Chemoreception Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular neurobiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yazdani, Mazyar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms</atitle><jtitle>Molecular neurobiology</jtitle><stitle>Mol Neurobiol</stitle><addtitle>Mol Neurobiol</addtitle><date>2024-08-01</date><risdate>2024</risdate><volume>61</volume><issue>8</issue><spage>5665</spage><epage>5679</epage><pages>5665-5679</pages><issn>0893-7648</issn><issn>1559-1182</issn><eissn>1559-1182</eissn><abstract>Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. It is caused by mitochondrial DNA (mtDNA) rearrangements, mostly large-scale deletions of 1.1–10 kb. These deletions primarily affect energy supply through impaired oxidative phosphorylation and reduced ATP production. This impairment gives rise to dysfunction of several tissues, in particular those with high energy demand like brain and muscles. Over the past decades, changes in respiratory chain complexes and energy metabolism have been emphasized, whereas little attention has been paid to other reports on ROS overproduction, protein synthesis inhibition, myelin vacuolation, demyelination, autophagy, apoptosis, and involvement of lipid raft and oligodendrocytes in KSS. Therefore, this paper draws attention towards these relatively underemphasized findings that might further clarify the pathologic cascades following deletions in the mtDNA.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>38224444</pmid><doi>10.1007/s12035-024-03938-7</doi><tpages>15</tpages><orcidid>https://orcid.org/0000-0002-9187-3231</orcidid></addata></record>
fulltext fulltext
identifier ISSN: 0893-7648
ispartof Molecular neurobiology, 2024-08, Vol.61 (8), p.5665-5679
issn 0893-7648
1559-1182
1559-1182
language eng
recordid cdi_proquest_miscellaneous_2914250699
source MEDLINE; SpringerLink Journals
subjects Animals
Apoptosis
Autophagy
Biomedical and Life Sciences
Biomedicine
Biopsy
Brain research
Cell Biology
Demyelination
Disease
DNA, Mitochondrial - genetics
DNA, Mitochondrial - metabolism
Electron transport
Energy
Energy metabolism
Genetic testing
Humans
Kearns-Sayre Syndrome - genetics
Laboratories
Metabolism
Mitochondria
Mitochondria - genetics
Mitochondria - metabolism
Mitochondrial DNA
Muscles
Mutation
Myelin
Neurobiology
Neurology
Neurosciences
Oligodendrocytes
Oxidative phosphorylation
Phosphorylation
Protein biosynthesis
Protein synthesis
Protein turnover
Proteins
Sequence Deletion
title Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-24T01%3A43%3A02IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Cellular%20and%20Molecular%20Responses%20to%20Mitochondrial%20DNA%20Deletions%20in%20Kearns-Sayre%20Syndrome:%20Some%20Underlying%20Mechanisms&rft.jtitle=Molecular%20neurobiology&rft.au=Yazdani,%20Mazyar&rft.date=2024-08-01&rft.volume=61&rft.issue=8&rft.spage=5665&rft.epage=5679&rft.pages=5665-5679&rft.issn=0893-7648&rft.eissn=1559-1182&rft_id=info:doi/10.1007/s12035-024-03938-7&rft_dat=%3Cproquest_pubme%3E3080901583%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=3080901583&rft_id=info:pmid/38224444&rfr_iscdi=true