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.

References

[1] Benoy V, Van Helleputte L, Prior R, et al. HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease[J]. Brain, 2018, 141:673-687.
[2] Atkinson D, Nikodinovic Glumac J, Asselbergh B, et al. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy[J]. Neurology, 2017, 88:533-542.
[3] Sun SC, Ma D, Li MY, et al. Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease[J]. Brain, 2019, 142:2215-2229.
[4] Rajendren S, Manning AC, Al-Awadi H, et al. A protein-protein interaction underlies the molecular basis for substrate recognition by an adenosine-to-inosine RNA-editing enzyme[J]. Nucleic Acids Res, 2018, 46:9647-9659.
[5] Tao F, Beecham GW, Rebelo AP, et al. Variation in SIPA1L2 is correlated with phenotype modification in Charcot-Marie-Tooth disease type 1A[J]. Ann Neurol, 2019, 85:316-330.
[6] Lv Y, Li Y, Zhang D, et al. HMGB1-induced asthmatic airway inflammation through GRP75-mediated enhance-ment of ER-mitochondrial Ca²⁺ transfer and ROS increased[J]. J Cell Biochem, 2018, 119:4205-4215.
[7] Xu H, Guan N, Ren YL, et al. IP3R-Grp75-VDAC1-MCU calcium regulation axis antagonists protect podocytes from apoptosis and decrease proteinuria in an Adriamycin nephropathy rat model[J]. BMC Nephrol, 2018, 19:140. doi: 10.1186/s12882-018-0940-3.
[8] Campanacci V, Urvoas A, Consolati T, et al. Selection and characterization of artificial proteins targeting the tubulin α subunit[J]. Structure, 2019, 27:497-506.
[9] Sainio MT, Ylikallio E, Mäenpää L, et al. Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy[J]. Neurol Genet, 2018, 4:e244. doi: 10.1212/NXG.0000000000000244.
[10] Jin Y, Wang J, Ye X, et al. Identification of Glc NAcylated alpha-1-antichymotrypsin as an early biomarker in human non-small-cell lung cancer by quantita-tive proteo-mic analysis with two lectins[J]. Br J Cancer, 2016, 114:532-544.
[11] Bernard-Marissal N, van Hameren G, Juneja M, et al. Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy[J]. Proc Natl Acad Sci U S A, 2019, 116:2328-2337.
[12] Wang S, Mo Y, Midorikawa K, et al. The potent tumor suppressor miR-497 inhibits cancer phenotypes in nasopharyngeal carcinoma by targeting ANLN and HSPA4L[J]. Oncotarget, 2015, 6:35893-35907.
[13] Shi W, Xu G, Wang C, et al. Heat shock 70-kDa protein 5 (Hspa5) is essential for pronephros formation by mediating retinoic acid signaling[J]. J Biol Chem, 2015, 290:577-589.

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