A new cellular model to follow Friedreich's ataxia development in a time-resolved way | Zendy

Tommaso Vannocci | Zendy; Nathalie Faggianelli | Zendy; Silvia Zaccagnino | Zendy; Ilaria della Rosa | Zendy; Salvatore Adinolfi | Zendy; Annalisa Pastore | Zendy

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A new cellular model to follow Friedreich's ataxia development in a time-resolved way

Author(s) -

Tommaso Vannocci,

Nathalie Faggianelli,

Silvia Zaccagnino,

Ilaria della Rosa,

Salvatore Adinolfi,

Annalisa Pastore

Publication year - 2015

Publication title -

disease models and mechanisms

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.327

H-Index - 83

eISSN - 1754-8411

pISSN - 1754-8403

DOI - 10.1242/dmm.020545

Subject(s) - frataxin , ataxia , biology , phenotype , crispr , gene , function (biology) , genetics , disease , cellular model , transcription activator like effector nuclease , gene knockout , neuroscience , computational biology , microbiology and biotechnology , genome editing , iron binding proteins , cell culture , medicine , pathology

Friedreich's ataxia (FRDA) is a recessive autosomal ataxia caused by reduced levels of frataxin (FXN), an essential mitochondrial protein that is highly conserved from bacteria to primates. The exact role of frataxin and its primary function remain unclear although this information would be very valuable to design a therapeutic approach for FRDA. A main difficulty encountered so far has been that of establishing a clear temporal relationship between the different observations that could allow a distinction between causes and secondary effects, and provide a clear link between aging and disease development. To approach this problem, we developed a cellular model in which we can switch off/on in a time-controlled way the frataxin gene partially mimicking what happens in the disease. We exploited the TALEN and CRISPR methodologies to engineer a cell line where the presence of an exogenous, inducible FXN gene rescues the cells from the knockout of the two endogenous FXN genes. This system allows the possibility of testing the progression of disease and is a valuable tool for following the phenotype with different newly acquired markers.

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