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

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.

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