The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
Estructura híbrida; Atrofia muscular espinal; Neurona motora de supervivencia 1
| Autores: | , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2021 |
| País: | España |
| Institución: | Departament de Salut de la Generalitat de Catalunya (DS) |
| Repositorio: | Scientia. Dipòsit d'Informació Digital del Departament de Salut |
| OAI Identifier: | oai:scientiasalut.gencat.cat:11351/7423 |
| Acceso en línea: | https://hdl.handle.net/11351/7423 |
| Access Level: | acceso abierto |
| Palabra clave: | Atròfia muscular espinal - Tractament Neurones motores Farmacologia molecular DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal Other subheadings::Other subheadings::/therapy ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Molecular Targeted Therapy ANATOMY::Nervous System::Neurons::Neurons, Efferent::Motor Neurons ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal Otros calificadores::Otros calificadores::/terapia ANATOMÍA::sistema nervioso::neuronas::neuronas eferentes::neuronas motoras TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia molecular selectiva |
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The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular AtrophyBlasco Perez, LauraCuscó Martín, IvonTizzano Ferrari, Eduardo FidelCosta Roger, MarAtròfia muscular espinal - TractamentNeurones motoresFarmacologia molecularDISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, SpinalOther subheadings::Other subheadings::/therapyANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Molecular Targeted TherapyANATOMY::Nervous System::Neurons::Neurons, Efferent::Motor NeuronsENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinalOtros calificadores::Otros calificadores::/terapiaANATOMÍA::sistema nervioso::neuronas::neuronas eferentes::neuronas motorasTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia molecular selectivaEstructura híbrida; Atrofia muscular espinal; Neurona motora de supervivencia 1Hybrid structure; Spinal muscular atrophy; Survival motor neuron 1Estructura híbrida; Atròfia muscular espinal; Neurona motora de supervivència 1After 26 years of discovery of the determinant survival motor neuron 1 and the modifier survival motor neuron 2 genes (SMN1 and SMN2, respectively), three SMN-dependent specific therapies are already approved by FDA and EMA and, as a consequence, worldwide SMA patients are currently under clinical investigation and treatment. Bi-allelic pathogenic variants (mostly deletions) in SMN1 should be detected in SMA patients to confirm the disease. Determination of SMN2 copy number has been historically employed to correlate with the phenotype, predict disease evolution, stratify patients for clinical trials and to define those eligible for treatment. In view that discordant genotype-phenotype correlations are present in SMA, besides technical issues with detection of SMN2 copy number, we have hypothesized that copy number determination is only the tip of the iceberg and that more deepen studies of variants, sequencing and structures of the SMN2 genes are necessary for a better understanding of the disease as well as to investigate possible influences in treatment responses. Here, we highlight the importance of a comprehensive approach of SMN1 and SMN2 genetics with the perspective to apply for better prediction of SMA in positive neonatal screening cases and early diagnosis to start treatments.This work was partially supported by Grants from Biogen and Roche (to E.F.T. supporting M.C.-R. and L.B.-P.), and from Spanish Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias and cofunded with ERDF funds (Grant No. FIS PI18/000687) (to E.F.T.).MDPIInstitut Català de la Salut[Costa-Roger M, Blasco-Pérez L, Tizzano EF] Grup de Recerca en Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Cuscó I] Grup de Recerca en Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 08035 Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202220222021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/7423Scientiareponame:Scientia. Dipòsit d'Informació Digital del Departament de Salutinstname:Departament de Salut de la Generalitat de Catalunya (DS)InglésInternational Journal of Molecular Sciences;22(16)https://doi.org/10.3390/ijms22169029info:eu-repo/grantAgreement/ES/PE2013-2016/PI18%2F00687Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:scientiasalut.gencat.cat:11351/74232026-06-12T09:38:37Z |
| dc.title.none.fl_str_mv |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy |
| title |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy |
| spellingShingle |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy Blasco Perez, Laura Atròfia muscular espinal - Tractament Neurones motores Farmacologia molecular DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal Other subheadings::Other subheadings::/therapy ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Molecular Targeted Therapy ANATOMY::Nervous System::Neurons::Neurons, Efferent::Motor Neurons ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal Otros calificadores::Otros calificadores::/terapia ANATOMÍA::sistema nervioso::neuronas::neuronas eferentes::neuronas motoras TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia molecular selectiva |
| title_short |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy |
| title_full |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy |
| title_fullStr |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy |
| title_full_unstemmed |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy |
| title_sort |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy |
| dc.creator.none.fl_str_mv |
Blasco Perez, Laura Cuscó Martín, Ivon Tizzano Ferrari, Eduardo Fidel Costa Roger, Mar |
| author |
Blasco Perez, Laura |
| author_facet |
Blasco Perez, Laura Cuscó Martín, Ivon Tizzano Ferrari, Eduardo Fidel Costa Roger, Mar |
| author_role |
author |
| author2 |
Cuscó Martín, Ivon Tizzano Ferrari, Eduardo Fidel Costa Roger, Mar |
| author2_role |
author author author |
| dc.contributor.none.fl_str_mv |
Institut Català de la Salut [Costa-Roger M, Blasco-Pérez L, Tizzano EF] Grup de Recerca en Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Cuscó I] Grup de Recerca en Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 08035 Barcelona, Spain Vall d'Hebron Barcelona Hospital Campus |
| dc.subject.none.fl_str_mv |
Atròfia muscular espinal - Tractament Neurones motores Farmacologia molecular DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal Other subheadings::Other subheadings::/therapy ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Molecular Targeted Therapy ANATOMY::Nervous System::Neurons::Neurons, Efferent::Motor Neurons ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal Otros calificadores::Otros calificadores::/terapia ANATOMÍA::sistema nervioso::neuronas::neuronas eferentes::neuronas motoras TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia molecular selectiva |
| topic |
Atròfia muscular espinal - Tractament Neurones motores Farmacologia molecular DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal Other subheadings::Other subheadings::/therapy ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Molecular Targeted Therapy ANATOMY::Nervous System::Neurons::Neurons, Efferent::Motor Neurons ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal Otros calificadores::Otros calificadores::/terapia ANATOMÍA::sistema nervioso::neuronas::neuronas eferentes::neuronas motoras TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia molecular selectiva |
| description |
Estructura híbrida; Atrofia muscular espinal; Neurona motora de supervivencia 1 |
| publishDate |
2021 |
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2021 2022 2022 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
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https://hdl.handle.net/11351/7423 |
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Inglés |
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Inglés |
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International Journal of Molecular Sciences;22(16) https://doi.org/10.3390/ijms22169029 info:eu-repo/grantAgreement/ES/PE2013-2016/PI18%2F00687 |
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Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess |
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Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ |
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MDPI |
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