Pathological mechanism of Charcot-Marie-Tooth disease caused by the Ile122Asn mutation in the C1orf194 gene

Abstract

Abstract: Objective To explore the molecular mechanism of the autosomal dominant Charcot-Marie-Tooth disease caused by the Ile122Asn mutation in the C1orf194 gene. Methods Human wild C1orf194 and Ile122Asn mutation C1orf194 genes were constructed by PCR cloning, and then expressed in SH-SY5Y cells. Candidate c1orf194-interacting proteins were screened by stable isotope labeling with amino acids in cell culture-immunoprecipitation following liquid chromatograph mass spectrometer/mass spectrometer operation. The c1orf194-interacting proteins were validated by Western blot. Results Wild c1orf194 interacts with TBA1C, AACT, and HSPA4L in SH-SY5Y cells. However, the Ile122Asn mutant c1orf194 failed to bind to them. Conclusions The results indicate that the C1orf194 gene mutation may lead to an autosomal dominant CMT by losing protein-protein interactions which are involved in different functional pathways. This conclusion may make contribution to clear understanding of the c1orf194 function.

Key words: Charcot-Marie-Tooth disease, C1orf194 gene, mutation, interacting protein

CLC Number:

R745.1

CHEN Shi-kai, CHEN Jiu-ming, SUN Shun-chang. Pathological mechanism of Charcot-Marie-Tooth disease caused by the Ile122Asn mutation in the C1orf194 gene[J]. Basic & Clinical Medicine, 2021, 41(2): 159-164.

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