Charcot-Marie-Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neuropathy affecting motor and sensory neurons. The cellular and molecular mechanisms by which MFN2 mutations determine neuronal degeneration are largely unclear. No effective treatment exists for CMT2A, which has a high degree of genetic/phenotypic heterogeneity. The identification of mutations in MFN2 has allowed the generation of diverse transgenic animal models, but to date, their ability to recapitulate the CMT2A phenotype is limited, precluding elucidation of its pathogenesis and discovery of therapeutic strategies. This review will critically present recent progress in in vivo CMT2A disease modeling, discoveries, drawbacks and limitations, current challenges, and key reflections to advance the field towards developing effective therapies for these patients.

Animal Models of CMT2A: State-of-art and Therapeutic Implications / R. De Gioia, G. Citterio, E. Abati, M. Nizzardo, N. Bresolin, G.P. Comi, S. Corti, F. Rizzo. - In: MOLECULAR NEUROBIOLOGY. - ISSN 0893-7648. - 57:12(2020 Dec), pp. 5121-5129. [10.1007/s12035-020-02081-3]

Animal Models of CMT2A: State-of-art and Therapeutic Implications

Abati, Elena;Nizzardo, Monica;Bresolin, Nereo;Comi, Giacomo Pietro;Corti, Stefania;Rizzo, Federica
2020-12

Abstract

Charcot-Marie-Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neuropathy affecting motor and sensory neurons. The cellular and molecular mechanisms by which MFN2 mutations determine neuronal degeneration are largely unclear. No effective treatment exists for CMT2A, which has a high degree of genetic/phenotypic heterogeneity. The identification of mutations in MFN2 has allowed the generation of diverse transgenic animal models, but to date, their ability to recapitulate the CMT2A phenotype is limited, precluding elucidation of its pathogenesis and discovery of therapeutic strategies. This review will critically present recent progress in in vivo CMT2A disease modeling, discoveries, drawbacks and limitations, current challenges, and key reflections to advance the field towards developing effective therapies for these patients.
Animal model; CMT2A; MFN2; Strengths and weaknesses;
Settore MED/26 - Neurologia
27-ago-2020
Article (author)
File in questo prodotto:
File Dimensione Formato  
Gioia2020_Article_AnimalModelsOfCMT2AState-of-ar (1) AIR.pdf

accesso aperto

Tipologia: Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione 519.3 kB
Formato Adobe PDF
519.3 kB Adobe PDF Visualizza/Apri
Gioia2020_Article_AnimalModelsOfCMT2AState-of-ar.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 1.27 MB
Formato Adobe PDF
1.27 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/760995
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 2
social impact