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- Title
Role of contactin-1 axonal glycoprotein and polyphenol in a mice model of friedreich ataxia.
- Authors
Bizzoca, Antonella; Flace, Paolo; Caracciolo, Martina; Corsi, Patrizia; Magrone, Thea; Livrea, Paolo; Jirillo, Emilio; Gennarini, Gianfranco
- Abstract
Friedreich ataxia (FA) is an autosomal-recessive genetic disase, mainly characterized by cerebellar ataxia and cardiomyopathy. FA is caused by the expansion of a GAA triplet repeat in the first intron of the Frataxin (FXN) gene, which encode for Frataxin, a mitochondrial protein involved in the iron-sulfur cluster biogenesis in turn responsible for mitochondrial ATP production. In this study we used the Fxntm1MknTg(FXN-)YG8Pook/J line a FRDA transgenic mouse models which implied the carrying the human Frataxin (Pook) gene in emizygosis and the occurrence of a variable number of supernumerary GAA triplets. In this study a phenotypes of 6 month-old mutant mice and of their wild type littermates were compared. We submitted to immunohistochemical procedures cerebellar and spinal cord cryostat sections, and immunostained them, with antisera against the neuronal marker ß-tubulin and the glial marker, glial fibrillar acid protein (GFAP) as well as with a specific antiserum to Contactin 1 axonal glycoprotein. Moreover, we analysed in the same observed phenotype the administration effects of polyphenol epigallocatechin gallate (EGCG). In the mice mutants line the neuronal phenotype was significantly counteracted while a glial upregulation was rather observed and, as well as for Contactin 1 a reduced expression was detected, potentially indicating the involvement of the underlying gene in FA pathogenesis. Finally, EGCG administration counteracted the observed phenotype, indicating protective effects of antioxidant administration on the evolution of the disease.
- Subjects
ANIMAL disease models; LABORATORY mice; ATAXIA; MITOCHONDRIAL proteins; FRATAXIN; HUNTINGTIN protein; POLYPHENOL oxidase
- Publication
Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, Vol 125, p144
- ISSN
1122-6714
- Publication type
Article