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DNA Instability and Human Disease

 

作者: Susan E. Andrew,   Anthea C. Peters,  

 

期刊: American Journal of PharmacoGenomics  (ADIS Available online 2001)
卷期: Volume 1, issue 1  

页码: 21-28

 

ISSN:1175-2203

 

年代: 2001

 

出版商: ADIS

 

关键词: Cancer, pathogenesis;Gene therapies, pharmacodynamics

 

数据来源: ADIS

 

摘要:

It is now well established that non-Mendelian examples of DNA instability are associated with human disease. Most malignancies are associated with various chromosomal instabilities, such as aneuploidy, gene amplification, and chromosomal deletion. Furthermore, widespread microsatellite instability (MSI) is associated with a variety of tumors, and instability at specific dynamic repeat expansions underlies a family of neurologic disorders. Inactivation of DNA mismatch repair genes results in genomic instabilities affecting microsatellite regions. Mutations in genes involved in DNA polymerization or Okazaki fragment processing are also associated with MSI. Such instabilities convey a ‘mutator’ phenotype which is pathogenic. The mechanisms controlling trinucleotide repeat expansions are less well understood. Why this type of genomic instability is particularly pathogenic to neurons is also not clear. An understanding of what normally maintains stability is the first step towards preventing such loss of control and maintaining health.

 

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