Iron-sulfur Cluster ISD11 Deficiency (LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3-methylglutaconic Aciduria

Detalhes bibliográficos
Autor(a) principal: Coelho, Margarida Paiva
Data de Publicação: 2019
Outros Autores: Correia, Joana, Dias, Aureliano, Nogueira, Célia, Bandeira, Anabela, Martins, Esmeralda, Vilarinho, Laura
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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spelling 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
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str 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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