抗早发性无义突变疾病药物研究进展

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摘要随着后基因组时代的到来，基因芯片和大规模测序技术的Et趋完善。各种遗传疾病的病因学原理逐步被人们所了解，个性化治疗也渐渐进入了人们视野。由于遗传、基因突变（无义突变、移码突变、内含子错误剪切）或者后天性获得的原因．在基因组中正常终止密码子的上游，形成了一个提前的终止密码子，称为早发性无义突变.

作者申泉柴宝峰

机构地区山西大学化学生物学与分子工程教育部重点实验室

出处《中国药物与临床》 CAS 2013年第10期1313-1314,共2页 Chinese Remedies & Clinics

关键词无义突变早发性病药物后基因组时代终止密码子遗传疾病个性化治疗测序技术

参考文献20

1Mort M. A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat, 2008,29 (8) : 1037-1047.
2Barton-Davis ER. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest, 1999, 104(4) :375-381.
3Linde L,Kerem B. Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet,2008,24(11):552- 563.
4Clancy JP. Evidence that systemic gentamicin suppresses prema- ture stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med,2001,163(7) : 1683-1692.
5Malik V. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol,2010,67(6):771-780.
6Francois B. Crystal structures of complexes between aminoglyco- sides and decoding A site oligonucleotides: role of the number of rings and positive charges in the specific binding leading to mis- coding. Nucleic Acids Res, 2005,33 (17) : 5677-5690.
7Demeshkina N. A new understanding of the decoding principle on the ribosome. Nature, 2012,484(7393) : 256-259.
8Bedwell DM. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med,1997,3(11):1280- 1284.
9Floquet C. Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides. Nucleic Acids Res,2011,39(8) :3350- 3362.
10Du M. Poly-L-aspartic acid enhances and prolongs gentamicin- mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model. J Biol Chem,2009,284( 11 ):6885-6892.

中国药物与临床

2013年第10期

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