An international research team led by Dr. Ana Guadaño at the Alberto Sols Biomedical Research Institute (IIBM, a combined CSIC-UAM center) and involving the Complutense University of Madrid (UCM), used CRISPR gene editing techniques to incorporate into mice a mutation of the MCT8 protein responsible for transporting thyroid hormones to the interior of the cell.
Patients with mutations in this protein suffer from Allan-Herndon-Dudley syndrome, a rare disease that takes the form of serious neurological alterations, in which each patient may reveal a different mutation of MCT8.
This study, published in Neurobiology of Disease, describes the first avatar model for the disease—in other words, the first animal model with the same genetic alteration as various patients.
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