Ask about this productRelated genes to: MTTP antibody
- Gene:
- MT-TP NIH gene
- Name:
- mitochondrially encoded tRNA-Pro (CCN)
- Previous symbol:
- MTTP
- Synonyms:
- trnP
- Chromosome:
- mitochondria
- Locus Type:
- RNA, transfer
- Date approved:
- 1989-10-11
- Date modifiied:
- 2018-11-16
- Gene:
- MTTP NIH gene
- Name:
- microsomal triglyceride transfer protein
- Previous symbol:
- MTP
- Synonyms:
- ABL
- Chromosome:
- 4q23
- Locus Type:
- gene with protein product
- Date approved:
- 1994-12-07
- Date modifiied:
- 2019-02-27
Related products to: MTTP antibody
Related articles to: MTTP antibody
- Mitochondria are essential organelles involved in cell metabolism and are closely linked to various metabolic disorders. In this study, we aimed to develop a prognostic model for endometrial cancer (EC) patients based on mitochondria-related genes (MRGs), and to investigate the role of MACC1 in EC. As shown in the graphic summary, we retrieved gene expression and clinical data from open-access databases. To construct a predictive signature, we applied the Lasso Cox regression algorithm to MRGs. The predictive performance, immune features, and anti-tumor response of the mitochondrial signature were evaluated through multiple algorithms. Additionally, expression levels of key genes were validated using quantitative Real-Time PCR and Western Blot. A total of 2030 MRGs were retrieved, and 267 were found to be prognostically relevant. Eight MRGs-MACC1, CMPK2, NDUFAF6, DUSP18, TOMM40L, MT-TP, SAMM50, and MAIP1-were identified to construct a prognostic signature for EC. The MRG signature demonstrated significant associations with drug sensitivity, immune therapy, and immune cell infiltration. Based on comprehensive bioinformatic analysis, MACC1 was identified as the most promising MRG candidate in EC. Systematic experimental validation, including both in vitro and in vivo approaches, demonstrated that MACC1 down-regulation significantly suppressed EC progression, highlighting its potential as a therapeutic target. - Source: PubMed
Publication date: 2025/05/12
Lin XuefenZheng JianfengLi YanhongLiu LinyingLiu QinyingLin JieSun Yang - Mice harboring a D257A mutation in the proofreading domain of the mitochondrial DNA polymerase, Polymerase Gamma (POLG), experience severe metabolic dysfunction and display hallmarks of accelerated aging. We previously reported a mitochondrial unfolded protein response (UPT) - like (UPR-like) gene and protein expression pattern in the right ventricular tissue of POLG mutant mice. - Source: PubMed
Publication date: 2023/10/18
Bayazit M BilalFrancois AshleyMcGrail ErinAccornero FedericaStratton Matthew S - The high variability in clinical and metabolic presentations of inborn errors of cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in methylmalonyl-coA mutase (MUT) and methionine synthase (MS), are not well understood. They could be explained by the impaired expression/activity of enzymes from other metabolic pathways. - Source: PubMed
Publication date: 2024/01/01
Wiedemann ArnaudOussalah AbderrahimGuéant Rodriguez Rosa-MariaJeannesson EliseMerten MarcRotaru IrinaAlberto Jean-MarcBaspinar OkanRashka CharifHassan ZiadSiblini YoussefMatmat KarimJeandel ManonChery CelineRobert AurélieChevreux GuillaumeLignières LaurentCamadro Jean-MichelHergalant SébastienFeillet FrançoisCoelho DavidGuéant Jean-Louis - A 16-year-old boy was evaluated for a history of exercise-induced fatigability associated with nausea even after minimal effort, lower limbs muscle hypotrophy, and swelling of the masseter muscles after chewing. Laboratory tests were remarkable for hyperlactatemia and metabolic acidosis after short physical activity. The muscle biopsy showed non-specific mitochondrial alterations and an increase in intrafibral lipids. Biochemical analysis showed reduced activity of the respiratory chain complexes. Mitochondrial DNA sequencing revealed the presence of a homoplasmic variant m.15992A>T in the MT-TP gene, coding for the mt-tRNA in the patient, in his mother and in his brother. Pathogenic or likely pathogenic variants in MT-TP gene are rare. They are responsible for different clinical presentation, almost ever involving the muscle tissue. We report the first family with exercise-induced muscle weakness and swelling of the chewing muscles due to m.15992A>T variant in absence of J1c10 haplogroup, confirming its pathogenicity. - Source: PubMed
Publication date: 2023/11/04
Ghirigato ElenaTerenzi FrancescaBaglivo MirkoZanetti NadiaBaldo FrancescoMurru Flora MariaBobbo MarcoBarbi EgidioZeviani MassimoBruno IreneLamantea Eleonora - Solute carriers belong to the biggest group of transporters in the human genome, but more knowledge is needed to fully understand their function and possible role as therapeutic targets. SLC38A10, a poorly characterized solute carrier, is preliminary characterized here. By using a knockout mouse model, we studied the biological effects of SLC38A10 deficiency in vivo. We performed a transcriptomic analysis of the whole brain and found seven differentially expressed genes in SLC38A10-deficient mice (, , , , , and ). By measuring amino acids in plasma, we found lower levels of threonine and histidine in knockout males, whereas no amino acid levels were affected in females, suggesting that SLC38A10 might affect sexes differently. Using RT-qPCR, we investigated the effect of SLC38A10 deficiency on mRNA expression of other SLC38 members, and in the brain, liver, lung, muscle, and kidney, but no differences were found. Relative telomere length measurement was also taken, as a marker for cellular age, but no differences were found between the genotypes. We conclude that SLC38A10 might be important for keeping amino acid homeostasis in plasma, at least in males, but no major effects were seen on transcriptomic expression or telomere length in the whole brain. - Source: PubMed
Publication date: 2023/03/30
Lindberg Frida ANordenankar KarinForsberg Erica CFredriksson Robert