Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease

Hum Genet. 1996 Dec;98(6):633-5. doi: 10.1007/s004390050273.

Abstract

Huntington's disease (HD) is a neurodegenerative disorder associated with CAG repeat expansion. We measured transglutaminase (TGase) activity in lymphocytes from 35 HD patients and from healthy individuals to ascertain whether it was altered in this condition. TGase activity was above maximum control levels in 25% of HD patients; it was correlated with the age of the patient and inversely correlated with the CAG repeat length. These results suggest that: (1) HD could be biochemically heterogeneous, and (2) the length of the CAG repeat expansion/TGase ratio could be important in the manifestation of HD.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Female
  • Humans
  • Huntington Disease / enzymology
  • Huntington Disease / genetics*
  • Lymphocytes / enzymology
  • Male
  • Middle Aged
  • Repetitive Sequences, Nucleic Acid
  • Transglutaminases / genetics*
  • Transglutaminases / metabolism

Substances

  • Transglutaminases