TY - JOUR
T1 - Animal Models of CMT2A
T2 - State-of-art and Therapeutic Implications
AU - De Gioia, Roberta
AU - Citterio, Gaia
AU - Abati, Elena
AU - Nizzardo, Monica
AU - Bresolin, Nereo
AU - Comi, Giacomo Pietro
AU - Corti, Stefania
AU - Rizzo, Federica
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Animal model
KW - CMT2A
KW - MFN2
KW - Strengths and weaknesses
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U2 - 10.1007/s12035-020-02081-3
DO - 10.1007/s12035-020-02081-3
M3 - Review article
AN - SCOPUS:85089903510
VL - 57
SP - 5121
EP - 5129
JO - Molecular Neurobiology
JF - Molecular Neurobiology
SN - 0893-7648
IS - 12
ER -