Loss of functional albumin triggers acceleration of transthyretin amyloid fibril formation in familial amyloidotic polyneuropathy

Lab Invest. 2011 Aug;91(8):1219-28. doi: 10.1038/labinvest.2011.71. Epub 2011 May 2.

Abstract

Transthyretin (TTR)-related familial amyloidotic polyneuropathy (FAP) is characterized by systemic accumulation of amyloid fibrils caused by a point mutation in the TTR gene. Despite the urgent need for alternative therapeutic strategies, the pathogenesis of FAP still remains elusive. In our study reported here, we focused on albumin, the most abundant protein in plasma, and described the role of albumin in the TTR amyloid-formation process. Patients with FAP evidenced significantly decreased serum albumin levels as the disease progressed. Biacore analysis showed that albumin had a binding affinity for TTR and exhibited higher affinity for TTR amyloid than native TTR. Albumin functioning as an antioxidant effectively suppressed TTR amyloid formation. In patients with FAP, albumin was significantly oxidized as the disease progressed. Moreover, loss of functional albumin accelerated TTR deposition in analbuminemic rats possessing a human variant TTR gene. Taken together, these results indicate that albumin may have an inhibitory role in the TTR amyloid-formation process.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid / metabolism*
  • Amyloid Neuropathies, Familial / genetics
  • Amyloid Neuropathies, Familial / metabolism*
  • Animals
  • Antioxidants / metabolism
  • Enzyme-Linked Immunosorbent Assay
  • Humans
  • Oxidative Stress
  • Prealbumin / immunology
  • Prealbumin / metabolism*
  • Protein Structure, Quaternary
  • Rats
  • Rats, Sprague-Dawley
  • Rats, Transgenic

Substances

  • Amyloid
  • Antioxidants
  • Prealbumin