Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/6624 |
Resumo: | Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31497476/ |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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7160 |
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Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic AciduriaMitochondrial DiseasesLYRM4 GeneMitochondrial Disorder.3‐methylglutaconic aciduriaFe‐S clustersISD11Doenças GenéticasFree PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31497476/In the era of genomics, the number of genes linked to mitochondrial disease has been quickly growing, producing massive knowledge on mitochondrial biochemistry. LYRM4 gene codifies for ISD11, a small protein (11 kDa) acting as an iron-sulfur cluster, that has been recently confirmed as a disease-causing gene for mitochondrial disorders. We present a 4-year-old girl patient, born from non-consanguineous healthy parents, with two episodes of cardiorespiratory arrest after respiratory viral illness with progressive decreased activity and lethargy, at the age of 2 and 3 years. She was asymptomatic between crisis with regular growth and normal development. During acute events of illness, she had hyperlactacidemia (maximum lactate 5.2 mmol/L) and urinary excretion of ketone bodies and 3-methylglutaconic acid, which are normalized after recovery. A Next Generation Sequence approach with a broad gene panel designed for mitochondrial disorders revealed a novel probably pathogenic variant in homozygosity in the LYRM4 gene [p.Tyr31Cys (c.92A>G)] with Mendelian segregation. Functional studies in the skeletal muscle confirmed a combined deficiency of the mitochondrial respiratory chain (I, II, and IV complexes). To our knowledge, this is the third case of LYRM4 deficiency worldwide and the first with 3-methylglutaconic aciduria, not reported in any Fe-S cluster deficiency. Remarkably, it appears to be no neurological involvement so far, only with life-threating acute crisis triggered by expectably benign autolimited illnesses. Respiratory chain cofactors and chaperones are a new field of knowledge and can play a remarkable effect in system homeostasis.Fundação para a Ciência e a Tecnologia, Grant/Award Number: PTDC/DTP‐PIC/2220/2014; NORTE2020, Grant/Award Number: NORTE‐01‐0246‐FEDER‐000014WileyRepositório Científico do Instituto Nacional de SaúdeCoelho, Margarida PaivaCorreia, JoanaDias, AurelianoNogueira, CéliaBandeira, AnabelaMartins, EsmeraldaVilarinho, Laura2020-05-08T18:47:46Z2019-07-242019-07-24T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/6624engJIMD Rep. 2019 Jul 24;49(1):11-16. doi: 10.1002/jmd2.12058. eCollection 2019 Sep2192-830410.1002/jmd2.12058info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:41:46Zoai:repositorio.insa.pt:10400.18/6624Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:41:42.684737Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria |
title |
Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria |
spellingShingle |
Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria Coelho, Margarida Paiva Mitochondrial Diseases LYRM4 Gene Mitochondrial Disorder. 3‐methylglutaconic aciduria Fe‐S clusters ISD11 Doenças Genéticas |
title_short |
Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria |
title_full |
Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria |
title_fullStr |
Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria |
title_full_unstemmed |
Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria |
title_sort |
Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria |
author |
Coelho, Margarida Paiva |
author_facet |
Coelho, Margarida Paiva Correia, Joana Dias, Aureliano Nogueira, Célia Bandeira, Anabela Martins, Esmeralda Vilarinho, Laura |
author_role |
author |
author2 |
Correia, Joana Dias, Aureliano Nogueira, Célia Bandeira, Anabela Martins, Esmeralda Vilarinho, Laura |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Coelho, Margarida Paiva Correia, Joana Dias, Aureliano Nogueira, Célia Bandeira, Anabela Martins, Esmeralda Vilarinho, Laura |
dc.subject.por.fl_str_mv |
Mitochondrial Diseases LYRM4 Gene Mitochondrial Disorder. 3‐methylglutaconic aciduria Fe‐S clusters ISD11 Doenças Genéticas |
topic |
Mitochondrial Diseases LYRM4 Gene Mitochondrial Disorder. 3‐methylglutaconic aciduria Fe‐S clusters ISD11 Doenças Genéticas |
description |
Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31497476/ |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-07-24 2019-07-24T00:00:00Z 2020-05-08T18:47:46Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/6624 |
url |
http://hdl.handle.net/10400.18/6624 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
JIMD Rep. 2019 Jul 24;49(1):11-16. doi: 10.1002/jmd2.12058. eCollection 2019 Sep 2192-8304 10.1002/jmd2.12058 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Wiley |
publisher.none.fl_str_mv |
Wiley |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132161717043200 |