Ask about this productRelated genes to: C3orf31 antibody
- Gene:
- TAMM41 NIH gene
- Name:
- TAM41 mitochondrial translocator assembly and maintenance homolog
- Previous symbol:
- C3orf31
- Synonyms:
- MGC16471, DKFZp434E0519
- Chromosome:
- 3p25.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-12-22
- Date modifiied:
- 2015-09-25
Related products to: C3orf31 antibody
Related articles to: C3orf31 antibody
- Pathogenic variants in TAMM41 were recently linked to mitochondrial myopathy, presenting with neonatal hypotonia, generalized weakness, developmental delay, ptosis, and ophthalmoparesis. Here, we present a long-term follow-up of an additional case, a Brazilian patient harboring a novel TAMM41 variant in compound heterozygosity with a previously described pathogenic variant. Patient exhibited mild developmental delay, acquired independent gait, but subsequently developed motor regression and weakness associated with recurrent infections, severe axial involvement, and marked restrictive pulmonary dysfunction. Muscle biopsy revealed decreased COX and SDH staining, which may serve as an important diagnostic clue for this condition. This case expanded the genetic spectrum of TAMM41-related mitochondrial myopathy and provided a brief review of disorders associated with reduced SDH staining. - Source: PubMed
Publication date: 2025/12/23
Moreno Cristiane Araujo MartinsGontijo Clara CameloFonseca Alulin Tacio Quadros Santos MonteiroHorvath RitaSchlesinger DavidZanoteli Edmar - Drug resistance is common in epileptic patients, necessitating the exploration of novel therapeutic strategies to convert drug resistance into drug responsiveness. The repurposing of existing drugs has emerged as an attractive approach for finding novel drugs. In this study, we utilized a combination of network computation and text mining techniques to identify potential repurposable drugs for treating drug-resistant epilepsy (DRE) and elucidate the underlying mechanisms. Our analysis identified fluvoxamine as a promising candidate for repurposing in epilepsy treatment. Using the lamotrigine-pentylenetetrazol kindling drug-resistant epilepsy model, we found that fluvoxamine effectively converted drug-resistant epilepsy in mice to drug responsiveness, including against gabapentin, phenytoin sodium, and carbamazepine. Additionally, fluvoxamine mitigated the elevated blood-brain barrier permeability associated with drug-resistant epilepsy by activating the sigma-1 receptor (S1R). Furthermore, fluvoxamine inhibited ferroptosis in endothelial cells induced by kainic acid. Proteome test revealed that fluvoxamine increased the expression of TAM41 Mitochondrial Translocator Assembly And Maintenance Homolog (TAMM41), a protein located in the inner mitochondrial membrane of endothelial cells. Notably, the knockdown or conditional knockout of TAMM41 in brain microvascular endothelial cells (BMVECs) reversed the protective effects of fluvoxamine on the blood-brain barrier (BBB) integrity and its inhibitory action on ferroptosis. In contrast, fluoxetine, despite sharing similar pharmacokinetic features and receptor spectrum with fluvoxamine, didn't elevate TAMM41 levels or exhibit anti-drug-resistant epileptic activity. Collectively, our findings demonstrate that fluvoxamine restores the responsiveness of DRE mice to antiepileptic drugs, alleviates BBB impairment, and inhibits BMVECs ferroptosis by activating the S1R-TAMM41 axis in BMVECs. Given the critical role of BBB disruption in drug-resistant epilepsy pathogenesis, this study may offer novel therapeutic strategies for treating drug-resistant epilepsy. - Source: PubMed
Publication date: 2025/11/21
Guo LinLiu SiyuLv NaJi JianlunLin XintingKe YingLiu ZhidongSun CongcongWang Yun - Several limitations such as delayed onset and insufficient efficacy exist in current antidepressant treatments, thereby driving the search for new therapeutic approaches. Ketamine produces a rapid and sustained antidepressant response, yet its molecular mechanisms remain elusive. Here, we elucidated that the transfer of sigma-1 receptor (S1R) from astrocytes to neurons was associated with ketamine's antidepressant effect. Mechanistically, we identified that ketamine activated the mitochondrial protein TAMM41 and then facilitated the transfer of astrocytic S1R via the TAMM41-cardiolipin-exosomes axis. Furthermore, conditional deletion of astrocytic TAMM41 exhibited depressive-like behaviors and abolished the sustained antidepressant effect of ketamine. Inspired by these findings of endogenous exosomes delivering S1R, we devised a strategy to engineer exosome-encapsulated S1R (S1R-EXOs) using exosomes released by human red blood cells and synthetic S1R mRNA. We found that exogenous S1R-EXOs effectively delivered S1R to neurons in S1R knockout mice. Finally, we verified that exogenous S1R-EXOs produced antidepressant-like effect. Our findings reveal that astrocytic TAMM41 underlies the sustained antidepressant effect of ketamine through exosomal delivery of S1R to neurons, offering potential for new strategies in depression treatment. Considering the advantages of human red blood cells and therapeutic mRNA, our results also provide a promising avenue that warrants further translational and clinical exploration. - Source: PubMed
Publication date: 2025/09/16
Guo LinLin XintingWang QinghuaLiu ZiyuLiu SiyuLv NaLiu ZhidongWang YinanSun CongcongWang Yun - Several lines of evidence have highlighted the crucial role of mitochondria-based therapy in depression. However, there are still less mitochondrial targets for the depression treatment. TAM41 mitochondrial translocator assembly and maintenance homolog (TAMM41) is a mitochondrial inner membrane protein for maintaining mitochondrial function, which is tightly related to many brain diseases including Alzheimer's diseases and epilepsy. Here, we investigated whether TAMM41 would be a potential target to treat depression. We found that the expression of TAMM41 was markedly lower in corticosterone-induced depression, lipopolysaccharide-induced depression, and depressed patients. Meanwhile, loss of TAMM41 resulted in increased immobility in the forced swim test (FST), tail suspension test (TST), and center time in open field test (OFT), suggesting depressive-like behaviors in mice. Moreover, genetic overexpression of TAMM41 obviously exerted antidepressant-like activities. Mechanistically, proteomics revealed that pacsin1 might be the underlying target of TAMM41. Further data supported that TAMM41 regulated the expression of pacsin1, and its antidepressant-like effect at least partially was attributed to pacsin1. In addition, exosomes containing TAMM41 was sufficient to exhibit antidepressant-like effect, suggesting an alternative strategy to exert the effect of TAMM41. Taken together, the present study demonstrates the antidepressant-like effect of TAMM41 and sheds light on its molecular mechanism. These finding provide new insights into a therapeutic strategy targeting mitochondria in the development of novel antidepressants. - Source: PubMed
Publication date: 2024/05/16
Guo LinLiu ZiyuJia XiaoxiaWang QinghuaJi JianlunLv NaLiu ZhidongZhou QinSun CongcongWang Yun - Colorectal cancer (CRC) poses a significant health challenge. This study aims to investigate the prognostic value of a regulatory T cell (Treg)-related gene signature in CRC. - Source: PubMed
Li QingqingChu YuxinYao YiSong Qibin