TY - JOUR T1 - The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection A1 - Rodríguez-Mora, Sara A1 - De Wit, Flore A1 - García-Perez, Javier A1 - Bermejo, Mercedes A1 - López-Huertas, María Rosa A1 - Mateos, Elena A1 - Martí, Pilar A1 - Rocha, Susana A1 - Vigón, Lorena A1 - Christ, Frauke A1 - Debyser, Zeger A1 - Vílchez, Juan Jesús A1 - Coiras, Mayte A1 - Alcamí, José Y1 - 2019/08/29 N2 - Author summary TNPO3 has been described as a key factor in the infection by the human immunodeficiency virus (HIV-1), the causative agent of AIDS. In 2013, a relationship between a genetic defect in TNPO3 gene and a rare muscle disease named Limb Girdle Muscular Dystrophy 1F (LGMD1F), with an autosomal dominant transmission, was discovered. LGMD1F patients show a heterozygous single nucleotide deletion in the TNPO3 gene that generates a TNPO3_mut protein. Our results demonstrate that cells from patients with this mutation in TNPO3 are resistant to HIV-1 infection in vitro. We are faced with an in vivo situation in which the genetic defect that causes this rare disease confers resistance to HIV infection. Therefore, TNPO3 mutation represents a natural model to understand the pathogenesis of both diseases. 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. The use of HIV-1 as a methodological tool will permit a better understanding of the physiopathological mechanisms derived from the mutation in TNPO3 that causes the muscle disease. JF - PLOS Pathogens JA - PLOS Pathogens VL - 15 IS - 8 UR - https://doi.org/10.1371/journal.ppat.1007958 SP - e1007958 EP - PB - Public Library of Science M3 - doi:10.1371/journal.ppat.1007958 ER -