IMMT基因,也称为mitofilin或Mic60,编码一种定位于线粒体内膜的蛋白质,在线粒体形态和功能的维持中发挥着重要作用。IMMT是线粒体接触位点和嵴组织系统(MICOS)复合物的一个关键组成部分,该复合物对于嵴连接的形成和维持线粒体内膜结构至关重要。IMMT的缺失会导致MICOS复合物破坏,影响线粒体的形态和功能,进而引发多种疾病。
IMMT基因在多种疾病中发挥重要作用,包括线粒体发育脑病、帕金森病和乳腺癌等。参考文献[1]报道了IMMT基因缺失导致MICOS复合物破坏,线粒体嵴形态改变,并在成年小鼠中引发致命的肠道功能障碍和脱水。参考文献[2]报道了IMMT基因的突变与线粒体发育脑病和视神经病变相关,这些患者表现为发育迟缓、肌张力减退和眼球震颤等症状。参考文献[3]报道了IMMT基因的突变与帕金森病相关,这些患者表现为运动障碍和神经退行性变。参考文献[4]报道了IMMT基因在乳腺癌中发挥重要作用,高表达的IMMT与肿瘤进展和不良预后相关。
IMMT基因的研究对于理解线粒体形态和功能的维持机制,以及线粒体相关疾病的发生机制具有重要意义。参考文献[5]报道了IMMT基因的缺失与线粒体功能障碍相关,这些肿瘤表现出严重的线粒体功能丧失和转移倾向。参考文献[6]报道了IMMT基因的表达与肾脏透明细胞癌的预后相关,低表达的IMMT与不良预后相关。参考文献[7]报道了维生素D可以增加IMMT基因的表达,从而改善年龄相关的非酒精性脂肪肝病。
综上所述,IMMT基因是一种重要的线粒体内膜蛋白,参与调控线粒体形态和功能的维持,与多种疾病的发生发展密切相关。深入研究IMMT基因的功能和机制,有助于开发针对线粒体相关疾病的诊断和治疗策略。
参考文献:
1. Rockfield, Stephanie M, Turnis, Meghan E, Rodriguez-Enriquez, Ricardo, Vogel, Peter, Opferman, Joseph T. 2024. Genetic ablation of Immt induces a lethal disruption of the MICOS complex. In Life science alliance, 7, . doi:10.26508/lsa.202302329. https://pubmed.ncbi.nlm.nih.gov/38467404/
2. Marco-Hernández, Ana Victoria, Tomás-Vila, Miguel, Montoya-Filardi, Alejandro, Pitarch-Castellano, Inmaculada, Martínez-Castellano, Francisco. 2021. Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene. In Clinical genetics, 101, 233-241. doi:10.1111/cge.14093. https://pubmed.ncbi.nlm.nih.gov/34842280/
3. Gialluisi, Alessandro, Reccia, Mafalda Giovanna, Modugno, Nicola, Ciullo, Marina, Esposito, Teresa. 2021. Identification of sixteen novel candidate genes for late onset Parkinson's disease. In Molecular neurodegeneration, 16, 35. doi:10.1186/s13024-021-00455-2. https://pubmed.ncbi.nlm.nih.gov/34148545/
4. Lin, Hung-Yu, Wu, Hsing-Ju, Chu, Pei-Yi. 2023. Multi-omics and experimental analysis unveil theragnostic value and immunological roles of inner membrane mitochondrial protein (IMMT) in breast cancer. In Journal of translational medicine, 21, 189. doi:10.1186/s12967-023-04035-4. https://pubmed.ncbi.nlm.nih.gov/36899366/
5. Zeng, Pengfei, Lu, Liyue, Zhang, Hanxiao, Yu, Tong, Zhou, Hang. 2023. Therapeutic targets for endometriosis: Genome-wide Mendelian randomization and colocalization analyses. In Gene, 893, 147970. doi:10.1016/j.gene.2023.147970. https://pubmed.ncbi.nlm.nih.gov/37931855/
6. Hiyoshi, Yasuhiro, Sato, Yuichi, Ichinoe, Masaaki, Masuda, Noriyuki, Naoki, Katsuhiko. 2019. Prognostic significance of IMMT expression in surgically-resected lung adenocarcinoma. In Thoracic cancer, 10, 2142-2151. doi:10.1111/1759-7714.13200. https://pubmed.ncbi.nlm.nih.gov/31583841/
7. Chen, Chun-Chi, Chu, Pei-Yi, Lin, Hung-Yu. 2023. Supervised Learning and Multi-Omics Integration Reveals Clinical Significance of Inner Membrane Mitochondrial Protein (IMMT) in Prognostic Prediction, Tumor Immune Microenvironment and Precision Medicine for Kidney Renal Clear Cell Carcinoma. In International journal of molecular sciences, 24, . doi:10.3390/ijms24108807. https://pubmed.ncbi.nlm.nih.gov/37240154/