Slipping while sleeping? Trinucleotide repeat expansions in germ cells

Trends Mol Med. 2003 Nov;9(11):490-5. doi: 10.1016/j.molmed.2003.09.006.

Abstract

Trinucleotide expansions cause at least 30 diseases including Huntington's disease (HD). Many are inherited predominantly through paternal transmissions, which are probably the result of germ-cell-specific mutations. A recent study of testicular germ cells in HD patients revealed that expansions occur in diploid cells before the completion of meiosis. Therefore, expansions are not limited to the late-haploid spermatids, in which the genome is 'sleeping'. These results have implications both for research aimed at understanding the transmission of this serious mutation and for developing new therapies for the disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Humans
  • Huntington Disease / genetics
  • Male
  • Meiosis / genetics*
  • Meiosis / physiology
  • Oogenesis / genetics
  • Oogenesis / physiology
  • Ovum / metabolism*
  • Spermatogenesis / genetics
  • Spermatogenesis / physiology
  • Spermatozoa / metabolism*
  • Trinucleotide Repeat Expansion*