Research Progress of Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome Caused by the Mutation of TRIM8 Gene

doi:10.12280/gjszjk.20230263

Abstract

Abstract:

Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is a rare autosomal dominant disease caused by the mutation of TRIM8 gene encoding tripartite motif protein 8 on chromosome 10q24.32, which is characterized by developmental delay, renal diseases and epilepsy. FSGSNEDS often progresses to end-stage renal disease after the illness sets in. The phenotype of patients varies greatly, while there are few related studies. A total of 24 cases have been described until September 15, 2023. The definite diagnosis mainly depends on gene testing. At present, there is no specific therapy for FSGSNEDS, and the treatment methods are mainly targeted in the supportive care. Patients usually presented pharmaco-resistant epilepsy, and renal abnormalities were resistant to steroid therapy, whereas optimistic prognosis was expected undergoing early renal transplantation. This article reviews the advances in FSGSNEDS, in order to further improve the understanding of this disease.

Key words: Glomerulosclerosis, focal segmental, Neurodevelopmental disorders, TRIM8 gene, Epilepsy, Kidney system diseases, Diagnosis, Therapy

DENG Quan-feng, XIN Min, XIA Lai-shuo, WANG Yi-fan, LIU Jin-xiu. Research Progress of Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome Caused by the Mutation of TRIM8 Gene[J]. Journal of International Reproductive Health/Family Planning, 2023, 42(6): 513-518.

Figures/Tables 2

References 25

[1]	Weng PL, Majmundar AJ, Khan K, et al. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis[J]. Am J Hum Genet, 2021, 108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. pmid: 33508234
[2]	Li W, Guo H. De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review[J]. Ital J Pediatr, 2023, 49(1):46. doi: 10.1186/s13052-023-01453-4. pmid: 37061734
[3]	Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, et al. De novo mutations in epileptic encephalopathies[J]. Nature, 2013, 501(7466):217-221. doi: 10.1038/nature12439.
[4]	Sakai Y, Fukai R, Matsushita Y, et al. De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy[J]. Ann Hum Genet, 2016, 80(4):235-240. doi: 10.1111/ahg.12157. pmid: 27346735
[5]	Assoum M, Lines MA, Elpeleg O, et al. Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations[J]. Am J Med Genet A, 2018, 176(11):2470-2478. doi: 10.1002/ajmg.a.40357. pmid: 30244534
[6]	Warren M, Takeda M, Partikian A, et al. Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis[J]. Pediatr Nephrol, 2020, 35(6):1129-1132. doi: 10.1007/s00467-020-04525-3.
[7]	McClatchey MA, du Toit ZD, Vaughan R, et al. Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation[J]. Eur J Med Genet, 2020, 63(9):103972. doi: 10.1016/j.ejmg.2020.103972.
[8]	Shirai Y, Miura K, Kaneko N, et al. A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report[J]. BMC Nephrol, 2021, 22(1):417. doi: 10.1186/s12882-021-02626-1. pmid: 34930159
[9]	高春林, 贾丽丽, 史卓, 等. TRIM8基因无义突变导致的儿童激素耐药性肾病2例[J]. 中华肾脏病杂志, 2022, 38(9):833-837. doi: 10.3760/cma.j.cn441217-20211224-00120.
[10]	Li X, Wei Y, Wang M, et al. Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review[J]. Front Pediatr, 2022, 10:918373. doi: 10.3389/fped.2022.918373.
[11]	孙旭辉, 辛敏, 田京梅, 等. 局灶节段性肾小球硬化和神经发育综合征患儿1例的遗传学分析[J]. 中华医学遗传学杂志, 2023, 40(9):1155-1159. doi: 10.3760/cma.j.cn511374-20220831-00592.
[12]	Vincent SR, Kwasnicka DA, Fretier P. A novel RING finger-B box-coiled-coil protein, GERP[J]. Biochem Biophys Res Commun, 2000, 279(2):482-486. doi: 10.1006/bbrc.2000.3984.
[13]	雷洁, 霍亮, 王华. TRIM8在神经系统中的作用研究进展[J]. 国际儿科学杂志, 2022, 49(9):616-619. doi: 10.3760/cma.j.issn.1673-4408.2022.09.009.
[14]	Bhaduri U, Merla G. Rise of TRIM8: A Molecule of Duality[J]. Mol Ther Nucleic Acids, 2020, 22:434-444. doi: 10.1016/j.omtn.2020.08.034.
[15]	Reymond A, Meroni G, Fantozzi A, et al. The tripartite motif family identifies cell compartments[J]. EMBO J, 2001, 20(9):2140-2151. doi: 10.1093/emboj/20.9.2140. pmid: 11331580
[16]	Watanabe M, Hatakeyama S. TRIM proteins and diseases[J]. J Biochem, 2017, 161(2):135-144. doi: 10.1093/jb/mvw087. pmid: 28069866
[17]	Marzano F, Guerrini L, Pesole G, et al. Emerging Roles of TRIM8 in Health and Disease[J]. Cells, 2021, 10(3):561. doi: 10.3390/cells10030561.
[18]	Hosseinalizadeh H, Mohamadzadeh O, Kahrizi MS, et al. TRIM8: a double-edged sword in glioblastoma with the power to heal or hurt[J]. Cell Mol Biol Lett, 2023, 28(1):6. doi: 10.1186/s11658-023-00418-z. pmid: 36690946
[19]	Caratozzolo MF, Micale L, Turturo MG, et al. TRIM8 modulates p53 activity to dictate cell cycle arrest[J]. Cell Cycle, 2012, 11(3):511-523. doi: 10.4161/cc.11.3.19008. pmid: 22262183
[20]	Huang N, Sun X, Li P, et al. TRIM family contribute to tumorigenesis, cancer development, and drug resistance[J]. Exp Hematol Oncol, 2022, 11(1):75. doi: 10.1186/s40164-022-00322-w. pmid: 36261847
[21]	Esposito JE, De Iuliis V, Avolio F, et al. Dissecting the Functional Role of the TRIM8 Protein on Cancer Pathogenesis[J]. Cancers (Basel), 2022, 14(9):2309. doi: 10.3390/cancers14092309.
[22]	Zhang BH, Liu H, Yuan Y, et al. Knockdown of TRIM8 Protects HK-2 Cells Against Hypoxia/Reoxygenation-Induced Injury by Inhibiting Oxidative Stress-Mediated Apoptosis and Pyroptosis via PI3K/Akt Signal Pathway[J]. Drug Des Devel Ther, 2021, 15:4973-4983. doi: 10.2147/DDDT.S333372.
[23]	Venuto S, Castellana S, Monti M, et al. TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways[J]. Biochim Biophys Acta Gen Subj, 2019, 1863(2):491-501. doi: 10.1016/j.bbagen.2018.12.001.
[24]	Guo L, Dong W, Fu X, et al. Tripartite Motif 8(TRIM8) Positively Regulates Pro-inflammatory Responses in Pseudomonas aeruginosa-Induced Keratitis Through Promoting K63-Linked Polyubiquitination of TAK1 Protein[J]. Inflammation, 2017, 40(2):454-463. doi: 10.1007/s10753-016-0491-3.
[25]	Ye W, Hu MM, Lei CQ, et al. TRIM8 Negatively Regulates TLR3/4-Mediated Innate Immune Response by Blocking TRIF-TBK1 Interaction[J]. J Immunol, 2017, 199(5):1856-1864. doi: 10.4049/jimmunol.1601647. pmid: 28747347