News Release

Mutation that causes rare muscle disease protects against HIV-1 infection

Transportin 3, where HIV and genetic muscle disease meet

Peer-Reviewed Publication


Mutation that Causes Rare Muscle Disease Protects against HIV-1 Infection

image: Role of TNPO3 in HIV Infection view more 

Credit: Rodríguez-Mora S, et al. (2019)

A mutation that causes a type of muscular dystrophy that affects the limbs protects against HIV-1 infection, according to a study published August 29 in the open-access journal PLOS Pathogens by Sara Rodríguez-Mora, Mayte Coiras and José Alcamí of the Instituto de Salud Carlos III in Madrid, Spain, and colleagues. As the authors noted, this is the second reported genetic defect known to induce strong resistance against HIV-1 infection in humans.

The Transportin 3 gene (TNPO3) encodes a protein, TNP03, that has been described as a key factor in HIV-1 infection. In 2001, researchers discovered a relationship between a genetic defect in TNPO3 and limb girdle muscular dystrophy 1F (LGMD1F) -- a rare muscle disease that causes weakness in the limbs and pelvis. In LGMD1F patients, TNPO3 generates a mutated protein called TNPO3_mut.

In the new study, Rodríguez-Mora Coiras and Alcamí analyzed the effect of TNPO3_mut on HIV-1 infection using blood cells from patients with LGMD1F. The results show that cells from patients with this mutation in TNPO3 are resistant to HIV-1 infection. According to the authors, cells from LGMD1F patients can be used to understand the mechanisms of action of TNPO3 in HIV infection and to design new therapeutic strategies for the treatment of both diseases.


Research Article

Funding: This work was supported by crowfunding site PRECIPITA from FECYT, the MERCKSALUD Foundation, the Spanish Ministry of Science (FIS PI12/00969; PI16CIII/00034; SAF2016-78480-R); the Spanish AIDS Research Network RD16CIII/0002/0001 that is included in Acción Estratégica en Salud, Plan Nacional de Investigación Científica, Desarrollo e Innovación Tecnológica 2016-2020, Instituto de Salud Carlos III, European Region Development Fund (FEDER); CIBERer-ISCIII (FIS PI16/00316) co-financed by the European Regional Development Founds (FEDER), IIS La Fe (2016-0388; 2018-0200), and Fundación Isabel Gemio ( The work of Dra. Sara Rodríguez-Mora is supported by the Asociación Conquistando Escalones, funded by Spanish LGMD1F patients and Sara Borrell grant from Instituto de Salud Carlos III. The work of Dra. María Rosa López-Huertas is financed by ISCIII-Subdirección General de Evaluación and European Funding for Regional Development (FEDER) and by Spanish Ministry of Economy and Competitiveness (PIE13/00040). The work of Elena Mateos is supported by the Spanish Ministry of Economy and Competitiveness SAF2016-78480-R. The work of Lorena Vigón is supported by a pre-doctoral grant from Instituto de Salud Carlos III. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Competing Interests: The authors have declared that no competing interests exist.

Citation: Rodríguez-Mora S, De Wit F, García-Perez J, Bermejo M, López-Huertas MR, Mateos E, et al. (2019) The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection. PLoS Pathog 15(8): e1007958.

Author Affiliations:

AIDS Immunopathogenesis Unit, National Center of Microbiology, Instituto de Salud Carlos III, Madrid, Spain

Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Flanders, Belgium

Department of Infectious Diseases, Hospital Ramón y Cajal, Alcalá de Henares University, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain

Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain

Laboratory for Photochemistry and Spectroscopy, Molecular Imaging and Photonics, Department of Chemistry, KU Leuven, Flanders, Belgium

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain

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