Role of tRNA modifications in human diseases

被引：303
作者：
Gabriel Torres, Adrian [1 ]
Batlle, Eduard [1 ,2 ]
Ribas de Pouplana, Lluis [1 ,2 ]
机构：
[1] Inst Biomed Res, Catalunya 08028, Spain
[2] Catalan Inst Res & Adv Studies ICREA, Barcelona 08010, Catalunya, Spain
来源：
TRENDS IN MOLECULAR MEDICINE | 2014年 / 20卷 / 06期
关键词：
tRNA; tRNA modifications; human disease; neurological disorders; cancer; COMPARATIVE GENOMIC HYBRIDIZATION; ANTICODON WOBBLE NUCLEOTIDE; BREAST-CANCER PATIENTS; ADENOSINE-DEAMINASE; MENTAL-RETARDATION; INSULIN-SECRETION; SPLICING MUTATION; EARLY-ONSET; MISU NSUN2; GENE;
D O I：
10.1016/j.molmed.2014.01.008
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Transfer RNAs (tRNAs) are key for efficient and accurate protein translation. To be fully active, tRNAs need to be heavily modified post-transcriptionally. Growing evidence indicates that tRNA modifications and the enzymes catalyzing such modifications may play important roles in complex human pathologies. Here, we have compiled current knowledge that directly link tRNA modifications to human diseases such as cancer, type 2 diabetes (T2D), neurological disorders, and mitochondrial-linked disorders. The molecular mechanisms behind these connections remain, for the most part, unknown. As we progress towards the understanding of the roles played by hypomodified tRNAs in human disease, novel areas of therapeutic intervention may be discovered.
引用
收藏
页码：306 / 314
页数：9
相关论文
共 71 条
[61]   A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family [J].
Takano, Kyoko ;
Nakagawa, Eiji ;
Inoue, Ken ;
Kamada, Fumiaki ;
Kure, Shigeo ;
Goto, Yu-ichi .
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2008, 147B (04) :479-484
[62]   Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children [J].
Takeoka, S ;
Unoki, M ;
Onouchi, Y ;
Doi, S ;
Fujiwara, H ;
Miyatake, A ;
Fujita, K ;
Inoue, I ;
Nakamura, Y ;
Tamari, M .
JOURNAL OF HUMAN GENETICS, 2001, 46 (02) :57-63
[63]   Transfer RNA Methytransferases and Their Corresponding Modifications in Budding Yeast and Humans: Activities, Predications, and Potential Roles in Human Health [J].
Towns, William L. ;
Begley, Thomas J. .
DNA AND CELL BIOLOGY, 2012, 31 (04) :434-454
[64]   Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs - Implications for the molecular pathogenesis of human mitochondrial diseases [J].
Umeda, N ;
Suzuki, T ;
Yukawa, M ;
Ohya, Y ;
Shindo, H ;
Watanabe, K ;
Suzuki, T .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (02) :1613-1624
[65]   Strong evidence of a genetic determinant for mammographic density, a major risk factor for breast cancer [J].
Vachon, Celine M. ;
Sellers, Thomas A. ;
Carlson, Erin E. ;
Cunningham, Julie M. ;
Hilker, Christopher A. ;
Smalley, Regenia L. ;
Schaid, Daniel J. ;
Kelemen, Linda E. ;
Couch, Fergus J. ;
Pankratz, V. Shane .
CANCER RESEARCH, 2007, 67 (17) :8412-8418
[66]   The mouse Trm1-like gene is expressed in neural tissues and plays a role in motor coordination and exploratory behaviour [J].
Vauti, Franz ;
Goller, Tobias ;
Beine, Rafael ;
Becker, Lore ;
Klopstock, Thomas ;
Hoelter, Sabine M. ;
Wurst, Wolfgang ;
Fuchs, Helmut ;
Gailus-Durner, Valerie ;
de Angelis, Martin Hrabe ;
Arnold, Hans-Henning .
GENE, 2007, 389 (02) :174-185
[67]   Functional loss of Cdkal1, a novel tRNA modification enzyme, causes the development of type 2 diabetes [J].
Wei, Fan-Yan ;
Tomizawa, Kazuhito .
ENDOCRINE JOURNAL, 2011, 58 (10) :819-825
[68]   Deficit of tRNALys modification by Cdkal1 causes the development of type 2 diabetes in mice [J].
Wei, Fan-Yan ;
Suzuki, Takeo ;
Watanabe, Sayaka ;
Kimura, Satoshi ;
Kaitsuka, Taku ;
Fujimura, Atsushi ;
Matsui, Hideki ;
Atta, Mohamed ;
Michiue, Hiroyuki ;
Fontecave, Marc ;
Yamagata, Kazuya ;
Suzuki, Tsutomu ;
Tomizawa, Kazuhito .
JOURNAL OF CLINICAL INVESTIGATION, 2011, 121 (09) :3598-3608
[69]   Modification defect at anticodon wobble nucleotide of mitochondrial tRNAsLeu(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes [J].
Yasukawa, T ;
Suzuki, T ;
Suzuki, T ;
Ueda, T ;
Ohta, S ;
Watanabe, K .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (06) :4251-4257
[70]   Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNALys with the MERRF encephalomyopathy pathogenic mutation [J].
Yasukawa, T ;
Suzuki, T ;
Ishii, N ;
Ueda, T ;
Ohta, S ;
Watanabe, K .
FEBS LETTERS, 2000, 467 (2-3) :175-178
12345678