Cell Biology and Physiology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, 9000 Rockville Pike, Bldg. 50/3537, Bethesda, MD, 20892, USA.
Cell Mol Life Sci. 2014 Jul;71(13):2483-97. doi: 10.1007/s00018-014-1565-8. Epub 2014 Jan 30.
The MiTF/TFE family of basic helix-loop-helix leucine zipper transcription factors includes MITF, TFEB, TFE3, and TFEC. The involvement of some family members in the development and proliferation of specific cell types, such as mast cells, osteoclasts, and melanocytes, is well established. Notably, recent evidence suggests that the MiTF/TFE family plays a critical role in organelle biogenesis, nutrient sensing, and energy metabolism. The MiTF/TFE family is also implicated in human disease. Mutations or aberrant expression of most MiTF/TFE family members has been linked to different types of cancer. At the same time, they have recently emerged as novel and very promising targets for the treatment of neurological and lysosomal diseases. The characterization of this fascinating family of transcription factors is greatly expanding our understanding of how cells synchronize environmental signals, such as nutrient availability, with gene expression, energy production, and cellular homeostasis.
MiTF/TFE 家族的碱性螺旋-环-螺旋亮氨酸拉链转录因子包括 MITF、TFEB、TFE3 和 TFEC。一些家族成员参与特定细胞类型的发育和增殖,如肥大细胞、破骨细胞和黑色素细胞,这一点已得到充分证实。值得注意的是,最近的证据表明,MiTF/TFE 家族在细胞器发生、营养感应和能量代谢中发挥着关键作用。MiTF/TFE 家族也与人类疾病有关。大多数 MiTF/TFE 家族成员的突变或异常表达与不同类型的癌症有关。同时,它们最近作为治疗神经和溶酶体疾病的新的、非常有前途的靶点出现。对这个迷人的转录因子家族的研究极大地扩展了我们对细胞如何将环境信号(如营养物质的可用性)与基因表达、能量产生和细胞内稳态同步的理解。