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Neuromuscular and Mitochondrial Pathology

The group focuses on the study of pathogenic mechanisms of the mitochondrial diseases, either caused by mutations in nuclear DNA or mitochondrial DNA, associated to diverse neuromuscular syndromes. Specifically, our active research lines are devoted to the study of diseases caused by dysfunctional mitochondrial DNA replication and maintenance, and mitochondrial protein synthesis. We put special efforts on finding and testing potential therapy approaches through preclinical investigation using in vitro and in vivo models of these diseases. We are also working on developing new approaches for genetic diagnosis for these disorders, as well as on testing novel genetic variants for potential pathogenicity trough functional studies.

In addition, we are also working on the study of other metabolic neuromuscular disorders, such as the glycogenosis type V (McArdle Disease) and other muscle glycogenoses. This research line includes the coordination of the European patient registry EUROMAC. 

Team

García Adán, Bernat

García Adán, Bernat

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Mónica Azucena Villarreal Salazar

Mónica Azucena Villarreal Salazar

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Pau Mollá Zaragozá

Pau Mollá Zaragozá

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Ramón Martí Seves

Ramón Martí Seves

Head of group
Neuromuscular and Mitochondrial Pathology
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Andrea Férriz Gordillo

Andrea Férriz Gordillo

Research technician
Neuromuscular and Mitochondrial Pathology
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Antonio Luis Andreu Périz

Antonio Luis Andreu Périz

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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García Adán, Bernat

García Adán, Bernat

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Mónica Azucena Villarreal Salazar

Mónica Azucena Villarreal Salazar

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Pau Mollá Zaragozá

Pau Mollá Zaragozá

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Ramón Martí Seves

Ramón Martí Seves

Head of group
Neuromuscular and Mitochondrial Pathology
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Andrea Férriz Gordillo

Andrea Férriz Gordillo

Research technician
Neuromuscular and Mitochondrial Pathology
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Antonio Luis Andreu Périz

Antonio Luis Andreu Périz

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Research lines

Characterization of genotype-phenotype association in McArdle’s disease

IP: -

Genetic and biochemical studies of mtDNA depletion and deletion syndromes; implications on the control of nucleotide pools

IP: -

Study of pathogenic mechanisms of mutations in mitochondrial DNA ( mtDNA) structural genes

IP: -

Study of possible therapy approaches for mtDNA depletion and deletion syndromes

IP: -

Projects

Generation of therapies and biomarkers for the treatment of mitochondrial dysfunction driven neurodegenerative diseases (DRUG4- COXPD1)

IP: Martí Seves, Ramon
Collaborators: -
Funding agency: FUNDACIO PRIVADA INSTITUT BIOENGINYERIA CATALUNYA
Funding: 0.01
Reference: T7243
Duration: 02/01/2023 - 18/11/2024

Estudi de malalties neuromusculars i mitocondrials

IP: Martí Seves, Ramon
Collaborators: Molina Berenguer, Miguel, García Arumí, Elena, Cámara Navarro, Yolanda, Melia Grimal, Mª Jesus, Pinós Figueras, Tomàs, Ramón Pasías, Javier Francisco, Férriz Gordillo, Andrea, Estudi de malalties neuromusculars i mitocondrials, Villarreal Salazar, Mónica Azucena
Funding agency: AGAUR no fer servir-correcte 4301-37
Funding: 0.01
Reference: 2021 SGR 00894
Duration: 01/01/2022 - 31/12/2024

Ayudas para la formación de profesorado universitario (FPU) 2021

IP: Martí Seves, Ramon
Collaborators: -
Funding agency: Ministerio de Universidades
Funding: 73389.26
Reference: FPU21/03074
Duration: 01/01/2023 - 31/12/2026

x

IP: Perez Lasarte, Laia
Collaborators: Mollá Zaragozá, Pau, Martí Seves, Ramon
Funding agency: Fundació Institut de Recerca HUVH
Funding: 55264.37
Reference: VHIR/PHDPROGRAMME/2022/MOLLA
Duration: 01/06/2022 - 30/09/2025

Publications

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

PMID: 36959467
Journal: JOURNAL OF HUMAN GENETICS
Year: 2023
Reference: J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23.
Impact factor:
Publication type: Paper in international publication
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Marti, Ramon; Martinez-Saez, Elena; Ramon, Javier; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria et al.
DOI: 10.1038/s10038-023-01144-2

An integral approach to the molecular diagnosis of tuberous sclerosis complex: the role of mosaicism and splicing variants.

PMID: 37356622
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2023
Reference: J Mol Diagn. 2023 Jun 23:S1525-1578(23)00134-4. doi: 10.1016/j.jmoldx.2023.06.006.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Blasco-Perez, Laura; Camprodon-Gomez, Maria; Garcia-Arumi, Elena; Iranzo-Nuez, Leticia; Lopez-Ortega, Ricard; Martinez-Cruz, Desiree; Tenes, Anna; Tizzano, Eduardo F et al.
DOI: 10.1016/j.jmoldx.2023.06.006

Assessment of dyspneic sensation in patients with type 2 diabetes.

PMID: 37635958
Journal: Frontiers in Endocrinology
Year: 2023
Reference: Front Endocrinol (Lausanne). 2023 Aug 10;14:1208020. doi: 10.3389/fendo.2023.1208020. eCollection 2023.
Impact factor:
Publication type: Paper in international publication
Authors: Arque, Anais; Balsells, Nuria; Garcia-Aguilera, Esther; Gutierrez-Carrasquilla, Liliana; Hernandez, Cristina; Lecube, Albert; Manzanares, Jose Maria; Marti, Raquel; Mateu, Magda; Mizab, Chadia et al.
DOI: 10.3389/fendo.2023.1208020

Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8.

PMID: 37216904
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2023
Reference: J Clin Endocrinol Metab. 2023 May 22:dgad280. doi: 10.1210/clinem/dgad280.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Baz-Redon, Noelia; Caimari, Maria; Camats-Tarruella, Nuria; Campos, Ariadna; Clemente, Maria; Cobo, Patricia; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Masas, Miriam et al.
DOI: 10.1210/clinem/dgad280

Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.

PMID: 34919756
Journal: FASEB JOURNAL
Year: 2022
Reference: FASEB J. 2022 Jan;36(1):e22091. doi: 10.1096/fj.202100819RRR.
Impact factor: 5.192
Publication type: Paper in international publication
Authors: Molina-Berenguer, Miguel; Vila-Julia, Ferran; Perez-Ramos, Sandra; Salcedo-Allende, Maria Teresa; Camara, Yolanda; Torres-Torronteras, Javier; Marti, Ramon et al.
DOI: 10.1096/fj.202100819RRR

Genetic diagnosis of basal ganglia disease in childhood.

PMID: 34988976
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2022
Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5.
Impact factor: 5.449
Publication type: Paper in international publication
Authors: Baide-Mairena, Heidy; Marti-Sanchez, Laura; Marce-Grau, Anna; Cazurro-Gutierrez, Ana; Sanchez-Montanez, Angel; Delgado, Ignacio; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Garcia-Arumi, Elena; Perez-Duenas, Belen et al.
DOI: 10.1111/dmcn.15125

Epileptic seizures in the emergency room: clinical and electroencephalographic findings associated with brain perfusion patterns on computed tomography.

PMID: 35152335
Journal: JOURNAL OF NEUROLOGY
Year: 2022
Reference: J Neurol. 2022 Jul;269(7):3761-3769. doi: 10.1007/s00415-022-11005-1. Epub 2022 Feb 13.
Impact factor: 4.849
Publication type: Paper in international publication
Authors: Coscojuela, P; Fonseca, E; Quintana, M; Sarria-Estrada, S; Santamarina, E; Abraira, L; Sueiras, M; Thonon, V; Alvarez-Sabin, J; Toledo, M et al.
DOI: 10.1007/s00415-022-11005-1

Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.

PMID: 35739187
Journal: Communications Biology
Year: 2022
Reference: Commun Biol. 2022 Jun 23;5(1):620. doi: 10.1038/s42003-022-03568-6.
Impact factor: 6.268
Publication type: Paper in international publication
Authors: Molina-Granada, David; Gonzalez-Vioque, Emiliano; Dibley, Marris G; Cabrera-Perez, Raquel; Vallbona-Garcia, Antoni; Torres-Torronteras, Javier; Sazanov, Leonid A; Ryan, Michael T; Camara, Yolanda; Marti, Ramon et al.
DOI: 10.1038/s42003-022-03568-6

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

PMID: 35052414
Journal: Genes
Year: 2021
Reference: Genes (Basel). 2021 Dec 28;13(1). pii: genes13010074. doi: 10.3390/genes13010074.
Impact factor: 4.096
Publication type: Review in international publication
Authors: Pinos, Tomas, Villarreal-Salazar, Monica, Brull, Astrid, Nogales-Gadea, Gisela, Andreu, Antoni L, Martin, Miguel A, Arenas, Joaquin, Santalla, Alfredo, Lucia, Alejandro, Vissing, John et al.
DOI: 10.3390/genes13010074

Neuromodulation Induced by Sitagliptin: A New Strategy for Treating Diabetic Retinopathy.

PMID: 34944588
Journal: Biomedicines
Year: 2021
Reference: Biomedicines. 2021 Nov 26;9(12). pii: biomedicines9121772. doi: 10.3390/biomedicines9121772.
Impact factor: 6.081
Publication type: Paper in international publication
Authors: Ramos, Hugo, Bogdanov, Patricia, Sabater, David, Huerta, Jordi, Valeri, Marta, Hernandez, Cristina, Simo, Rafael et al.
DOI: 10.3390/biomedicines9121772

Effects of the Topical Administration of Semaglutide on Retinal Neuroinflammation and Vascular Leakage in Experimental Diabetes.

PMID: 34440130
Journal: Biomedicines
Year: 2021
Reference: Biomedicines. 2021 Jul 31;9(8). pii: biomedicines9080926. doi: 10.3390/biomedicines9080926.
Impact factor: 6.081
Publication type: Paper in international publication
Authors: Simo, Rafael, Bogdanov, Patricia, Ramos, Hugo, Huerta, Jordi, Simo-Servat, Olga, Hernandez, Cristina et al.
DOI: 10.3390/biomedicines9080926

Therapy Prospects for Mitochondrial DNA Maintenance Disorders.

PMID: 34208592
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2021
Reference: Int J Mol Sci. 2021 Jun 16;22(12). pii: ijms22126447. doi: 10.3390/ijms22126447.
Impact factor: 5.924
Publication type: Review in international publication
Authors: Camara, Yolanda, Ramon, Javier, Vila-Julia, Ferran, Molina-Granada, David, Molina-Berenguer, Miguel, Melia, Maria Jesus, Garcia-Arumi, Elena, Torres-Torronteras, Javier, Marti, Ramon et al.
DOI: 10.3390/ijms22126447

Beneficial Effects of Glucagon-Like Peptide-1 (GLP-1) in Diabetes-Induced Retinal Abnormalities: Involvement of Oxidative Stress.

PMID: 32927585
Journal: Antioxidants
Year: 2020
Reference: Antioxidants (Basel). 2020 Sep 10;9(9). pii: antiox9090846. doi: 10.3390/antiox9090846.
Impact factor: 5.014
Publication type: Paper in international publication
Authors: Ramos, Hugo, Bogdanov, Patricia, Sampedro, Joel, Huerta, Jordi, Simo, Rafael, Hernandez, Cristina et al.
DOI: 10.3390/antiox9090846

Absence of p.R50X Pygm read-through in McArdle disease cellular models.

PMID: 31848135
Journal: Disease Models & Mechanisms
Year: 2020
Reference: Dis Model Mech. 2020 Jan 13;13(1). pii: dmm.043281. doi: 10.1242/dmm.043281.
Impact factor: 4.651
Publication type: Paper in international publication
Authors: Tarraso, Guillermo, Real-Martinez, Alberto, Pares, Marta, Romero-Cortadellas, Lidia, Puigros, Laura, de Luna, Noemi, Brull, Astrid, Martin, Miguel Angel, Arenas, Joaquin, Lucia, Alejandro et al.
DOI: 10.1242/dmm.043281

Significant Improvement in Diagnosis of Hepatitis C Virus Infection by One Step Strategy in a Central Laboratory: An Optimal Tool for Hepatitis C Elimination?

PMID: 31694971
Journal: JOURNAL OF CLINICAL MICROBIOLOGY
Year: 2019
Reference: J Clin Microbiol. 2019 Dec 23;58(1). pii: JCM.01815-19. doi: 10.1128/JCM.01815-19. Print 2019 Dec 23.
Impact factor: 4.959
Publication type: Paper in international publication
Authors: Quer, Josep, Casis-Saez, Ernesto, Rodriguez-Frias, Francisco, Esteban-Mur, Rafael, Buti-Ferret, Maria, Ferrer-Costa, Roser, Lopez-Martinez, Rosa, Arias-Garcia, Andrea, Rodriguez-Algarra, Francisco, Castellote-Belles, Laura et al.
DOI: 10.1128/JCM.01815-19

Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.

PMID: 31351931
Journal: EBioMedicine
Year: 2019
Reference: EBioMedicine. 2019 Aug;46:342-355. doi: 10.1016/j.ebiom.2019.07.042. Epub 2019 Jul 24.
Impact factor: 6.68
Publication type: Paper in international publication
Authors: Molina-Granada, David, Vila-Julia, Ferran, Jimenez-Heis, Daniel, Zhou, Xiaoshan, Torres-Torronteras, Javier, Karlsson, Anna, Marti, Ramon, Camara, Yolanda, Blazquez-Bermejo, Cora et al.
DOI: 10.1016/j.ebiom.2019.07.042

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.

PMID: 30914683
Journal: Scientific Reports
Year: 2019
Reference: Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8.
Impact factor: 4.011
Publication type: Paper in international publication
Authors: Real-Martinez, Alberto, Brull, Astrid, Huerta, Jordi, Tarraso, Guillermo, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Andreu, Antoni L, Nogales-Gadea, Gisela, Vissing, John et al.
DOI: 10.1038/s41598-019-41414-8

Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.

PMID: 30848931
Journal: FASEB JOURNAL
Year: 2019
Reference: FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8.
Impact factor: 5.391
Publication type: Paper in international publication
Authors: Blazquez-Bermejo, Cora, Carreno-Gago, Lidia, Molina-Granada, David, Aguirre, Josu, Ramon, Javier, Torres-Torronteras, Javier, Cabrera-Perez, Raquel, Martin, Miguel Angel, Dominguez-Gonzalez, Cristina, de la Cruz, Xavier et al.
DOI: 10.1096/fj.201801591R

Admission troponin-I predicts subsequent cardiac complications and mortality in acute stroke patients.

PMID: 31008281
Journal: European stroke journal
Year: 2016
Reference: Eur Stroke J. 2016 Sep;1(3):205-212. doi: 10.1177/2396987316654337. Epub 2016 Jun 21.
Impact factor: 0
Publication type: Paper in international publication
Authors: Bustamante, Alejandro, Diaz-Fernandez, Belen, Pagola, Jorge, Blanco-Grau, Albert, Rubiera, Marta, Penalba, Anna, Garcia-Berrocoso, Teresa, Montaner, Joan et al.
DOI: 10.1177/2396987316654337

Thesis

Hepatoencefalopatia deguda a mutacions en GFM1: obtenció d’un model de ratolí modificat genèticament i estudi preclínic de teràpia gènica amb vectors adenoassociats

PhD student: Miguel Molina Berenguer
Director/s: Javier Torres Torronteras, Ramon Martí Seves
University: Universitat Autònoma de Barcelona
Year: 2023

Avenços en la teràpia gènica per al MNGIE amb vectors adenoassociats: Validació en un model millorat de la malaltia i optimització de seqüència del gen terapèutic.

PhD student: Ferran Vila Julià
Director/s: Ramon Martí Seves, Javier Torres Torronteras
University: Universidad Autònoma de Barcelona
Year: 2021

Nous mecanismes de control en l’homeòstasi dels dNTPs mitocondrials: Paper de la proteïna NDUFA10 en la disponibilitat del dGTP.

PhD student: David Molina Granada
Director/s: Ramon Martí Seves, Yolanda Cámara Navarro
University: Universidad Autònoma de Barcelona
Year: 2021

Modelos celulares de la enfermedad de McArdle; evaluacion de la terapia farmacológica con agentes read-through, características del metabolismo energético y de la vía de la autofagia

PhD student: Guillermo Tarrasó Urios, Guillermo Tarrasó Urios, Guillermo Tarrasó Urios
Director/s: Tomàs Pinós Figueras
University: Universidad Autònoma de Barcelona
Year: 2020

Caracterización histológica, molecular y metabólica de la progresión fenotípica de la enfermedad de McArdle en el modelo murino

PhD student: Alberto Real Martinez, Alberto Real Martinez
Director/s: Tomàs Pinós Figueras
University: Universidad Autònoma de Barcelona
Year: 2020

Estimulación de la síntesis de nucleótidos como tratamiento de los defectos en la replicación del ADN mitocondrial

PhD student: Cora Blazquez Bermejo
Director/s: Yolanda Cámara Navarro, Ramon Martí Seves
University: Universidad Autònoma de Barcelona
Year: 2019

Terapia génica para el MNGIE: Estudio comparativo de diferentes vectores adeno-asociados en el modelo preclínico de la enfermedad.

PhD student: Raquel Cabrera Perez
Director/s: Ramon Martí Seves
University: Universidad Autònoma de Barcelona
Year: 2017

Configuración de una estrategia para identificación genético-molecular de pacientes OXPHOS

PhD student: Lidia Carreño Gago, Lidia Carreño Gago
Director/s: Elena García Arumí
University: Universidad Autònoma de Barcelona
Year: 2017

New insights into McArdle disease: Characterization of the murine model and development of new diagnosis and therapeutic approaches

PhD student: Astrid Brull Cañagueral
Director/s: Tomàs Pinós Figueras, Antonio Luis Andreu Périz
University: Universidad Autònoma de Barcelona
Year: 2015

Efecto de las mutaciones en el ADN mitocondrial sobre la expresión de genes implicados en la función mitocondrial

PhD student: Marc Cuadros Arasa, Marc Cuadros Arasa
Director/s: Elena García Arumí
University: Universidad Autònoma de Barcelona
Year: 2013

Estudios preclínicos de la terapia génica basada en células madre hematopoyéticas para el MNGIE

PhD student:
Director/s: Ramón Martí Seves, Jordi Barquinero Mañez
University: Universitat Autònoma de Barcelona
Year: 2011

Alteración del metabolismo de los nucleótidos en enfermedades mitocondriales causadas por defectos en la comunicación intergenómica

PhD student: Maria del Carmen Lara Castillo
Director/s: Ramon Martí Seves
University: Universitat de Barcelona
Year: 2008

Estudio de la fisiopatologia de la enfermedad de McArdle: análisis trancriptómicos en pacientes y caracterización de modelos experimentales

PhD student: Gisela Nogales Gadea
Director/s: Antonio Luis Andreu Périz, Ramon Martí Seves
University: Universitat de Barcelona
Year: 2008

Papel de las mutaciones del ADNmt en la producción de daño oxidativo mediado por ROS en un modelo de cíbridos transmitocondriales.

PhD student: Ricardo Gonzalo Sanz
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2005

Paper de les mutacions del mtDNA en la modulació del sistema antioxidant. Estudi en un model de cíbrids transmitocondrials.

PhD student: Cristòfol Vives Bauzà
Director/s: Antonio Luis Andreu Périz, Elena García Arumí
University: Universitat de Barcelona
Year: 2004

Contribución a la caracterización clínica y genética de la enfermedad de mcardle

PhD student: Josep Gamez Carbonell
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2002

Analisi genetico-molecular d'una nova forma de distrofia muscular de maluc autosomica dominant en un extens pedigri.

PhD student: Lluís Palenzuela Díaz
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2002

Blog

News

The newly developed analytical workflow could in the future be introduced as a comprehensive diagnostic test for patients with mitochondrial diseases.

Job offers

Research Technician_20240048
Start date:
05/02/2024
End date:
19/02/2024
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Bioinformatic Project Manager Medicine Genetics Group
Start date:
18/09/2023
End date:
03/10/2023
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Bioinformatic Project Manager - Medicine Genetics Group
Start date:
10/03/2023
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30/04/2023
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