Emerging Roles of TRIM8 in Health and Disease

Marzano, Flaviana; Guerrini, Luisa; Pesole, Graziano; Sbisà, Elisabetta; Tullo, Apollonia

doi:10.3390/cells10030561

Cited by 26 publications

(26 citation statements)

References 78 publications

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“…However, the associations between the TRIM8, SOCS1 protein expression, and renal manifestations remain unknown. It has been also described that TRIM8 induces p53-dependent cell cycle arrest [ 21 ]. Podocytes are terminally differentiated cells and have a limited capacity to divide.…”

Section: Discussionmentioning

confidence: 99%

A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report

et al. 2021

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Background Heterozygous truncating variants in the Tripartite motif containing 8 (TRIM8) gene have been reported to cause epileptic encephalopathy, both with and without proteinuria. A recent study showed a lack of TRIM8 protein expression, with suppressor of cytokine signaling 1 (SOCS1) overexpression, in podocytes and tubules from a patient with a TRIM8 variant, who presented with epileptic encephalopathy and focal segmental glomerulosclerosis (FSGS). To date, no patients with TRIM8 variants who presented with nephrotic syndrome but without neurological manifestations have been described. Case presentation An 8-year-old girl presented with nephrotic syndrome, without epilepsy or developmental delay. Her kidney biopsy specimens showed FSGS and cystic dilatations of the distal tubules. Whole-exome sequencing identified a novel de novo heterozygous variant in the C-terminal encoding portion of TRIM8 (c.1461C > A), resulting in a premature stop codon (p.Tyr487*). Reverse transcription-polymerase chain reaction using peripheral blood mononuclear cells identified the mRNA sequence of the mutant allele, which confirmed an escape from nonsense-mediated mRNA decay. Immunofluorescence studies showed a lack of TRIM8 expression in glomerular and tubular cells and cystic dilatation of distal tubules. Immunohistochemical studies showed overexpression of SOCS1 in glomerular and tubular cells. Conclusions We reported a patient with FSGS, associated with a de novo heterozygous TRIM8 variant, without any neurological manifestations. Our results expanded the clinical phenotypic spectrum of TRIM8 variants.

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Section: Discussionmentioning

confidence: 99%

A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report

et al. 2021

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“…Most member of the tripartite motif protein superfamily (TRIMs) exhibit E3 ubiquitin ligase activity due to the presence of ring finger domain, which is involved in the regulation of a variety of cell biological processes, including cell homeostasis, cell cycle, apoptosis, senescence ( 164 ). Increasing evidence suggests that some TRIM family members promote or inhibit the development of IBD through different mechanisms.…”

Section: Ub E3 Ligases and Ibdmentioning

confidence: 99%

The Role of E3 Ubiquitin Ligases and Deubiquitinases in Inflammatory Bowel Disease: Friend or Foe?

et al. 2021

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Inflammatory bowel disease (IBD), which include Crohn’s disease (CD) and ulcerative colitis (UC), exhibits a complex multifactorial pathogenesis involving genetic susceptibility, imbalance of gut microbiota, mucosal immune disorder and environmental factors. Recent studies reported associations between ubiquitination and deubiquitination and the occurrence and development of inflammatory bowel disease. Ubiquitination modification, one of the most important types of post-translational modifications, is a multi-step enzymatic process involved in the regulation of various physiological processes of cells, including cell cycle progression, cell differentiation, apoptosis, and innate and adaptive immune responses. Alterations in ubiquitination and deubiquitination can lead to various diseases, including IBD. Here, we review the role of E3 ubiquitin ligases and deubiquitinases (DUBs) and their mediated ubiquitination and deubiquitination modifications in the pathogenesis of IBD. We highlight the importance of this type of posttranslational modification in the development of inflammation, and provide guidance for the future development of targeted therapeutics in IBD.

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“…TRIM8 is ubiquitously expressed in human and mouse tissues, which has higher expression levels in the central nervous system, kidney, and lens, and lower expression level in digestive tract [ 44 ]. TRIM8 plays a key role in the immune response and participates in various fundamental biological processes such as cell survival, apoptosis, autophagy, differentiation, inflammation, and carcinogenesis [ 50 ].…”

Section: Trims In Alimentioning

confidence: 99%

The Emerging Roles of Tripartite Motif Proteins (TRIMs) in Acute Lung Injury

Huang

Xiao

Zhang

et al. 2021

Journal of Immunology Research

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Acute lung injury (ALI) is an inflammatory disorder of the lung that causes high mortality and lacks any pharmacological intervention. Ubiquitination plays a critical role in the pathogenesis of ALI as it regulates the alveolocapillary barrier and the inflammatory response. Tripartite motif (TRIM) proteins are one of the subfamilies of the RING-type E3 ubiquitin ligases, which contains more than 80 distinct members in humans involved in a broad range of biological processes including antivirus innate immunity, development, and tumorigenesis. Recently, some studies have shown that several members of TRIM family proteins play important regulatory roles in inflammation and ALI. Herein, we integrate emerging evidence regarding the roles of TRIMs in ALI. Articles were selected from the searches of PubMed database that had the terms “acute lung injury,” “ubiquitin ligases,” “tripartite motif protein,” “inflammation,” and “ubiquitination” using both MeSH terms and keywords. Better understanding of these mechanisms may ultimately lead to novel therapeutic approaches by targeting TRIMs for ALI treatment.

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Emerging Roles of TRIM8 in Health and Disease

Cited by 26 publications

References 78 publications

A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report

A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report

The Role of E3 Ubiquitin Ligases and Deubiquitinases in Inflammatory Bowel Disease: Friend or Foe?

The Emerging Roles of Tripartite Motif Proteins (TRIMs) in Acute Lung Injury

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