Transportin 3 Project

Transportin 3 (TNPO3), whose mission is to transport molecules into the cell nucleus, is an essential protein for HIV infection. On the other hand, members of the project research team described the genetic defect that causes a rare muscular disease called Limb Girdle Muscular Dystrophy type 1F (LGMD1F), an autosomal dominant disease. This genetic variation consists of one nucleotide deleted in the gene TNPO3. The research team has shown that cells from patients with the mutation in TNPO3 show strong resistance to "in vitro" HIV infection. This is an exceptional situation from the scientific point of view, because the genetic defect that causes a rare disease confers resistance to HIV infection, representing a natural model for understanding the pathogenesis of both diseases and allowing us to design therapeutic strategies for LGMD1F and against HIV.

The patient association “Asociación Conquistando Escalones” of people affected by this rare muscle disease (http://www.conquistandoescalones.org/web/) are doing an excellent job getting funding for this Project. A good example is the alliance established with the Villareal football club. As a result of this alliance, the association obtained 22,400 € corresponding to the sales of tickets of a football match:
http://www.villarrealcf.es/noticias/indice-general/endavant/item/12731-el-fruto-de-la-solidaridad
http://www.villarrealcf.es/noticias/indice-general/endavant/item/12627-hazte-con-tu-entrada-solidaria-ante-el-levante#tab2

 Some related news:

  • Interview with Dr Alcamí in TVE2 (01/04/2016): 

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