The mainmilestones achieved by our group in 2021 can be summarized as follows:
1-We completedthe characterization of a mouse model for a rare disease, the combined OXPHOS dysfunction due to mutations in GFM1 (Molina-Berenguer et al, FASEB J;doi:10.1096/fj.202100819RRR). This achievement allowed us to initiate of our ongoing testing of gene therapy forthis disease in this preclinical model.
2-We found a new role for the protein NDUFA10, a subunit of the mitochondrial OXPHOS Complex I. We demonstrated that this protein binds most mitochondrial dGTP, finding that constituted the PhD thesis of David Molina, presented in October 2021. Given the involvement of dNTPs in mitochondrial diseases, this novel physiological trait will be important to better understand the pathomechanisms of these disorders.
3-We generated a mobile app for McArdle disease patients (mov2improv), useful to empower patients to self-manage theirdisease, thus contributing to improve their quality of life.

Group Leader
Ramon Martí Seves

Principal Investigator (PI)
Elena García Arumí, Yolanda Cámara Navarro, Tomàs Pinós Figueras, Javier Torres Torronteras

PhD Students
Miguel Molina Berenguer, Javier Ramón Pasías, Mónica Azucena Villarreal Salazar

Lab Technicians
Maria Jesús Melià Grimal, Antoni Ruiz Vicaría








Ramón J, Vila-Julià F, Molina-Granada D, Molina-Berenguer M, Melià MJ, García-Arumí E, Torres-Torronteras J, Cámara Y, Martí R.
Therapy Prospects for Mitochondrial DNA Maintenance Disorders.
Int J Mol Sci. 2021 Jun 16;22(12):6447
DOI: doi: 10.3390/ijms22126447
IF: 5.924

Carreño-Gago L, Juárez-Flores DL, Grau JM, Ramón J, Lozano E, Vila-Julià F, Martí R, Garrabou G, Garcia-Arumí E.
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.
J Clin Med. 2021 Aug 5;10(16):3471
DOI: doi: 10.3390/jcm10163471
IF: 4.242

Villarreal-Salazar M, Brull A, Nogales-Gadea G, Andreu AL, Martín MA, Arenas J, Santalla A, Lucia A, Vissing J, Krag TO, Pinós T.
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.
Genes (Basel). 2021 Dec 28;13(1):74.
DOI: doi: 10.3390/genes13010074
IF: 4.096

Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
J Inherit Metab Dis. 2021 Mar;44(2):376-387
DOI: doi: 10.1002/jimd.12300.
IF: 4.982

Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento A, Olivé M, Quan J, Sardina MD, Martí R, Paradas C.
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Orphanet J Rare Dis. 2021 Oct 2;16(1):407
DOI: doi: 10.1186/s13023-021-02030-w
IF: 4.123

Deoxyribonucleosides as a therapy for mitochondrial DNA replication disorders: understanding therapeutic mechanisms and broadening the treatment to mutations in POLG and other related genes.
Principal Investigator: Ramon Martí
Agency: Fundació La Marató de TV3
Funding: 296,375 €
Period: May 2021 – April 2024

Mitochondrial respiratory complex I at the interface between oxidative metabolism and nucleotide homeostasis.
Principal Investigator: Yolanda Cámara
Agency: Ministerio de Ciencia e Innovación
Funding: 157,300 €
Period: Sep 2021-Aug 2024

Desarrollo de una estrategia de terapia génica para la deficiencia combinada de la fosforilación oxidativa tipo 1 debido a mutaciones en GFM1.
Principal Investigator: Javier Torres Torronteras
Agency: Fundación Mutua Madrileña
Funding: 150,000 €
Period: July 2021 – June 2023

Xarxa interhospitalària catalana de variants genètiques per millorar el diagnòstic genètic en malalties rares
Principal Investigator: Elena García Arumí
Agency: Fundació La Marató de TV3
Funding: 142,966 €
Period: May 2021 – April 2024

Biosafety studies for the treatment of mitochondrial DNA depletion/deletions syndromes by administration of nucleosides.
Principal Investigator: Ramon Martí
Agency: Instituto de Salud Carlos III
Funding: 193,220 €
Period: January 2019 – December 2021

Treatment of mitochondrial diseases
Priority Number: EP15170825.2
Priority Date: 05/06/2015
Applicants: 70% VHIR; 30% CIBERER

Deoxynucleoside therapy for diseases caused by unbalanced nucleotide pools including mitochondrial DNA depletion syndromes
Priority Number: US201562180914P
Priority Date: 17/06/2015