In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane

Ghanavatinejad, Fatemeh and Pourteymourfard‐Tabrizi, Zahra and Mahnam, Karim and Doosti, Abbas and Mehri‐Ghahfarrokhi, Ameneh and Pourhadi, Masoumeh and Azimeh Hosseini, Sayedeh and Hashemzadeh Chaleshtori, Morteza and Soltanzadeh, Payam and Jami, Mohammad‐Saeid (2020) In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane. Cell Biology International, 44 (2). pp. 671-683. ISSN 1065-6995

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Charcot-Marie-Tooth (CMT) diseases are a heterogeneous group of genetic peripheral neuropathies caused by mutations in a variety of genes, which are involved in the development and maintenance of peripheral nerves. Myelin protein zero (MPZ) is expressed by Schwann cells, and MPZ mutations can lead to primarily demyelinating polyneuropathies including CMT type 1B. Different mutations demonstrate various forms of disease pathomechanisms, which may be beneficial in understanding the disease cellular pathology. Our molecular dynamics simulation study on the possible impacts of I30T mutation on the MPZ protein structure suggested a higher hydrophobicity and thus lower stability in the membranous structures. A study was also conducted to predict native/mutant MPZ interactions. To validate the results of the simulation study, the native and mutant forms of the MPZ protein were separately expressed in a cellular model, and the protein trafficking was chased down in a time course pattern. In vitro studies provided more evidence on the instability of the MPZ protein due to the mutation. In this study, qualitative and quantitative approaches were adopted to confirm the instability of mutant MPZ in cellular membranes.

Item Type: Article
Subjects: QU Biochemistry > Cell biology and genetics
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: zeynab . bagheri
Date Deposited: 19 May 2020 08:10
Last Modified: 11 Nov 2020 04:58

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